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Zaspopathy - Wikipedia

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screen{html.skin-theme-clientpref-night .mw-parser-output .infobox-full-data:not(.notheme)>div:not(.notheme)[style]{background:#1f1f23!important;color:#f8f9fa}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .infobox-full-data:not(.notheme) div:not(.notheme){background:#1f1f23!important;color:#f8f9fa}}@media(min-width:640px){body.skin--responsive .mw-parser-output .infobox-table{display:table!important}body.skin--responsive .mw-parser-output .infobox-table>caption{display:table-caption!important}body.skin--responsive .mw-parser-output .infobox-table>tbody{display:table-row-group}body.skin--responsive .mw-parser-output .infobox-table tr{display:table-row!important}body.skin--responsive .mw-parser-output .infobox-table th,body.skin--responsive .mw-parser-output .infobox-table td{padding-left:inherit;padding-right:inherit}}</style><table class="infobox ib-medical-condition"><tbody><tr><th colspan="2" class="infobox-above" style="background:#ccc">Zaspopathy</th></tr><tr><th scope="row" class="infobox-label">Other names</th><td class="infobox-data">Late-onset distal myopathy, Markesbery-Griggs type</td></tr><tr style="background-color: #f8f9fa;"><td colspan="2" class="infobox-full-data"><span class="mw-default-size" typeof="mw:File/Frameless"><a href="/wiki/File:Autosomal_dominant_-_en.svg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/4/4e/Autosomal_dominant_-_en.svg/220px-Autosomal_dominant_-_en.svg.png" decoding="async" width="220" height="376" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/4/4e/Autosomal_dominant_-_en.svg/330px-Autosomal_dominant_-_en.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/4/4e/Autosomal_dominant_-_en.svg/440px-Autosomal_dominant_-_en.svg.png 2x" data-file-width="738" data-file-height="1260" /></a></span></td></tr><tr><td colspan="2" class="infobox-full-data">Zaspopathy has an autosomal dominant pattern of <a href="/wiki/Inheritance" title="Inheritance">inheritance</a>.</td></tr></tbody></table> <p><b>Zaspopathy</b>,<sup id="cite_ref-1" class="reference"><a href="#cite_note-1"><span class="cite-bracket">&#91;</span>1<span class="cite-bracket">&#93;</span></a></sup> also called <b>ZASP-related myofibril myopathy</b>,<sup id="cite_ref-2" class="reference"><a href="#cite_note-2"><span class="cite-bracket">&#91;</span>2<span class="cite-bracket">&#93;</span></a></sup> is a novel <a href="/wiki/Autosomal" class="mw-redirect" title="Autosomal">autosomal</a> <a href="/wiki/Dominance_(genetics)" title="Dominance (genetics)">dominant</a><sup id="cite_ref-z05_3-0" class="reference"><a href="#cite_note-z05-3"><span class="cite-bracket">&#91;</span>3<span class="cite-bracket">&#93;</span></a></sup> form of progressive <a href="/wiki/Muscular_dystrophy" title="Muscular dystrophy">muscular dystrophy</a>, first described in 2005. </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Cause">Cause</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Zaspopathy&amp;action=edit&amp;section=1" title="Edit section: Cause"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The disease encompasses multiple forms of both distal and proximal myopathies, and is caused by <a href="/wiki/Mutation" title="Mutation">mutations</a> in the <a href="/wiki/Gene" title="Gene">gene</a> referred to as ZASP.<sup id="cite_ref-z05_3-1" class="reference"><a href="#cite_note-z05-3"><span class="cite-bracket">&#91;</span>3<span class="cite-bracket">&#93;</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Pathophysiology">Pathophysiology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Zaspopathy&amp;action=edit&amp;section=2" title="Edit section: Pathophysiology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The ZASP gene is located at <a href="/wiki/Chromosome_10" title="Chromosome 10">chromosome 10</a>, and encodes also-called <a href="/wiki/Z-disk-associated_protein" class="mw-redirect" title="Z-disk-associated protein">Z-disk-associated protein</a>. Mutations in this protein causes disintegration of the Z-disk of contractile elements (<a href="/wiki/Myofibril" title="Myofibril">myofibrils</a>) in muscle cells.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">&#91;<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (October 2020)">citation needed</span></a></i>&#93;</sup> </p><p>Mutations of several other Z-disk related proteins, such as <a href="/wiki/Desmin" title="Desmin">desmin</a>, <a href="/wiki/Alfa-B-crystallin" class="mw-redirect" title="Alfa-B-crystallin">alfa-B-crystallin</a> and <a href="/wiki/Myotilin" class="mw-redirect" title="Myotilin">myotilin</a> can cause disorders similar to zaspopathy.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">&#91;<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (October 2020)">citation needed</span></a></i>&#93;</sup> </p> <div class="mw-heading mw-heading2"><h2 id="Diagnosis">Diagnosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Zaspopathy&amp;action=edit&amp;section=3" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1251242444">.mw-parser-output .ambox{border:1px solid #a2a9b1;border-left:10px solid #36c;background-color:#fbfbfb;box-sizing:border-box}.mw-parser-output .ambox+link+.ambox,.mw-parser-output .ambox+link+style+.ambox,.mw-parser-output .ambox+link+link+.ambox,.mw-parser-output .ambox+.mw-empty-elt+link+.ambox,.mw-parser-output .ambox+.mw-empty-elt+link+style+.ambox,.mw-parser-output .ambox+.mw-empty-elt+link+link+.ambox{margin-top:-1px}html body.mediawiki .mw-parser-output .ambox.mbox-small-left{margin:4px 1em 4px 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src="//upload.wikimedia.org/wikipedia/commons/thumb/1/1c/Wiki_letter_w_cropped.svg/20px-Wiki_letter_w_cropped.svg.png" decoding="async" width="20" height="14" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/1/1c/Wiki_letter_w_cropped.svg/30px-Wiki_letter_w_cropped.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/1/1c/Wiki_letter_w_cropped.svg/40px-Wiki_letter_w_cropped.svg.png 2x" data-file-width="44" data-file-height="31" /></a></span></td><td class="mbox-text"><div class="mbox-text-span"><b>This section is empty.</b> You can help by <a class="external text" href="https://en.wikipedia.org/w/index.php?title=Zaspopathy&amp;action=edit&amp;section=">adding to it</a>. <span class="date-container"><i>(<span class="date">August 2017</span>)</i></span></div></td></tr></tbody></table> <div class="mw-heading mw-heading2"><h2 id="References">References</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Zaspopathy&amp;action=edit&amp;section=5" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239543626">.mw-parser-output .reflist{margin-bottom:0.5em;list-style-type:decimal}@media screen{.mw-parser-output .reflist{font-size:90%}}.mw-parser-output .reflist .references{font-size:100%;margin-bottom:0;list-style-type:inherit}.mw-parser-output .reflist-columns-2{column-width:30em}.mw-parser-output .reflist-columns-3{column-width:25em}.mw-parser-output .reflist-columns{margin-top:0.3em}.mw-parser-output .reflist-columns ol{margin-top:0}.mw-parser-output .reflist-columns li{page-break-inside:avoid;break-inside:avoid-column}.mw-parser-output .reflist-upper-alpha{list-style-type:upper-alpha}.mw-parser-output .reflist-upper-roman{list-style-type:upper-roman}.mw-parser-output .reflist-lower-alpha{list-style-type:lower-alpha}.mw-parser-output .reflist-lower-greek{list-style-type:lower-greek}.mw-parser-output .reflist-lower-roman{list-style-type:lower-roman}</style><div class="reflist"> <div class="mw-references-wrap"><ol class="references"> <li id="cite_note-1"><span class="mw-cite-backlink"><b><a href="#cite_ref-1">^</a></b></span> <span class="reference-text"><style data-mw-deduplicate="TemplateStyles:r1238218222">.mw-parser-output cite.citation{font-style:inherit;word-wrap:break-word}.mw-parser-output .citation q{quotes:"\"""\"""'""'"}.mw-parser-output .citation:target{background-color:rgba(0,127,255,0.133)}.mw-parser-output .id-lock-free.id-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/6/65/Lock-green.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-limited.id-lock-limited a,.mw-parser-output .id-lock-registration.id-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/d/d6/Lock-gray-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-subscription.id-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/a/aa/Lock-red-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/4/4c/Wikisource-logo.svg")right 0.1em center/12px no-repeat}body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-free a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-limited a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-registration a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-subscription a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .cs1-ws-icon a{background-size:contain;padding:0 1em 0 0}.mw-parser-output .cs1-code{color:inherit;background:inherit;border:none;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;color:var(--color-error,#d33)}.mw-parser-output .cs1-visible-error{color:var(--color-error,#d33)}.mw-parser-output .cs1-maint{display:none;color:#085;margin-left:0.3em}.mw-parser-output .cs1-kern-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right{padding-right:0.2em}.mw-parser-output .citation .mw-selflink{font-weight:inherit}@media screen{.mw-parser-output .cs1-format{font-size:95%}html.skin-theme-clientpref-night .mw-parser-output .cs1-maint{color:#18911f}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .cs1-maint{color:#18911f}}</style><cite id="CITEREFGriggsViholaHackmanTalvinen2007" class="citation journal cs1">Griggs R, Vihola A, Hackman P, Talvinen K, Haravuori H, Faulkner G, Eymard B, Richard I, Selcen D, Engel A, Carpen O, Udd B (Jun 2007). <a rel="nofollow" class="external text" href="http://brain.oxfordjournals.org/cgi/pmidlookup?view=long&amp;pmid=17337483">"Zaspopathy in a large classic late-onset distal myopathy family"</a> <span class="cs1-format">(Free full text)</span>. <i>Brain: A Journal of Neurology</i>. <b>130</b> (Pt 6): 1477–1484. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1093%2Fbrain%2Fawm006">10.1093/brain/awm006</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a>&#160;<a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/17337483">17337483</a>.</cite><span title="ctx_ver=Z39.88-2004&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&amp;rft.genre=article&amp;rft.jtitle=Brain%3A+A+Journal+of+Neurology&amp;rft.atitle=Zaspopathy+in+a+large+classic+late-onset+distal+myopathy+family&amp;rft.volume=130&amp;rft.issue=Pt+6&amp;rft.pages=1477-1484&amp;rft.date=2007-06&amp;rft_id=info%3Adoi%2F10.1093%2Fbrain%2Fawm006&amp;rft_id=info%3Apmid%2F17337483&amp;rft.aulast=Griggs&amp;rft.aufirst=R&amp;rft.au=Vihola%2C+A&amp;rft.au=Hackman%2C+P&amp;rft.au=Talvinen%2C+K&amp;rft.au=Haravuori%2C+H&amp;rft.au=Faulkner%2C+G&amp;rft.au=Eymard%2C+B&amp;rft.au=Richard%2C+I&amp;rft.au=Selcen%2C+D&amp;rft.au=Engel%2C+A&amp;rft.au=Carpen%2C+O&amp;rft.au=Udd%2C+B&amp;rft_id=http%3A%2F%2Fbrain.oxfordjournals.org%2Fcgi%2Fpmidlookup%3Fview%3Dlong%26pmid%3D17337483&amp;rfr_id=info%3Asid%2Fen.wikipedia.org%3AZaspopathy" class="Z3988"></span></span> </li> <li id="cite_note-2"><span class="mw-cite-backlink"><b><a href="#cite_ref-2">^</a></b></span> <span class="reference-text"><a href="/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">Online Mendelian Inheritance in Man</a> (OMIM): <a rel="nofollow" class="external text" href="https://omim.org/entry/609452">609452</a></span> </li> <li id="cite_note-z05-3"><span class="mw-cite-backlink">^ <a href="#cite_ref-z05_3-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-z05_3-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFSelcenEngel2005" class="citation journal cs1">Selcen D, Engel AG (Feb 2005). <a rel="nofollow" class="external text" href="https://archive.today/20121217201841/http://www3.interscience.wiley.com/cgi-bin/abstract/109873262/ABSTRACT?CRETRY=1&amp;SRETRY=0">"Mutations in ZASP define a novel form of muscular dystrophy in humans"</a>. <i>Annals of Neurology</i>. <b>57</b> (2): 269–276. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1002%2Fana.20376">10.1002/ana.20376</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a>&#160;<a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/15668942">15668942</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a>&#160;<a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:25733755">25733755</a>. Archived from <a rel="nofollow" class="external text" href="http://www3.interscience.wiley.com/cgi-bin/abstract/109873262/ABSTRACT?CRETRY=1&amp;SRETRY=0">the original</a> on 2012-12-17.</cite><span title="ctx_ver=Z39.88-2004&amp;rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&amp;rft.genre=article&amp;rft.jtitle=Annals+of+Neurology&amp;rft.atitle=Mutations+in+ZASP+define+a+novel+form+of+muscular+dystrophy+in+humans&amp;rft.volume=57&amp;rft.issue=2&amp;rft.pages=269-276&amp;rft.date=2005-02&amp;rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A25733755%23id-name%3DS2CID&amp;rft_id=info%3Apmid%2F15668942&amp;rft_id=info%3Adoi%2F10.1002%2Fana.20376&amp;rft.aulast=Selcen&amp;rft.aufirst=D&amp;rft.au=Engel%2C+AG&amp;rft_id=http%3A%2F%2Fwww3.interscience.wiley.com%2Fcgi-bin%2Fabstract%2F109873262%2FABSTRACT%3FCRETRY%3D1%26SRETRY%3D0&amp;rfr_id=info%3Asid%2Fen.wikipedia.org%3AZaspopathy" class="Z3988"></span></span> </li> </ol></div></div> <div class="mw-heading mw-heading2"><h2 id="External_links">External links</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Zaspopathy&amp;action=edit&amp;section=6" title="Edit section: External links"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a href="/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">Online Mendelian Inheritance in Man</a> (OMIM): <a rel="nofollow" class="external text" href="https://omim.org/entry/605906">LIM DOMAIN-BINDING 3; LDB3 - 605906</a> (gene)</li></ul> <div class="navbox-styles"><style data-mw-deduplicate="TemplateStyles:r1236075235">.mw-parser-output .navbox{box-sizing:border-box;border:1px solid #a2a9b1;width:100%;clear:both;font-size:88%;text-align:center;padding:1px;margin:1em auto 0}.mw-parser-output .navbox .navbox{margin-top:0}.mw-parser-output .navbox+.navbox,.mw-parser-output .navbox+.navbox-styles+.navbox{margin-top:-1px}.mw-parser-output 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dd:first-child::before,.mw-parser-output .hlist dt dt:first-child::before,.mw-parser-output .hlist dt li:first-child::before,.mw-parser-output .hlist li dd:first-child::before,.mw-parser-output .hlist li dt:first-child::before,.mw-parser-output .hlist li li:first-child::before{content:" (";font-weight:normal}.mw-parser-output .hlist dd dd:last-child::after,.mw-parser-output .hlist dd dt:last-child::after,.mw-parser-output .hlist dd li:last-child::after,.mw-parser-output .hlist dt dd:last-child::after,.mw-parser-output .hlist dt dt:last-child::after,.mw-parser-output .hlist dt li:last-child::after,.mw-parser-output .hlist li dd:last-child::after,.mw-parser-output .hlist li dt:last-child::after,.mw-parser-output .hlist li li:last-child::after{content:")";font-weight:normal}.mw-parser-output .hlist ol{counter-reset:listitem}.mw-parser-output .hlist ol>li{counter-increment:listitem}.mw-parser-output .hlist ol>li::before{content:" "counter(listitem)"\a0 "}.mw-parser-output .hlist dd ol>li:first-child::before,.mw-parser-output .hlist dt ol>li:first-child::before,.mw-parser-output .hlist li ol>li:first-child::before{content:" ("counter(listitem)"\a0 "}</style><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"></div><div role="navigation" class="navbox" aria-label="Navbox" style="width:100%; margin:0.5em 0 0.5em 0;;padding:3px"><table class="nowraplinks navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">Classification</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"><div style="position:relative; float:right; font-size:0.8em;"><a href="https://www.wikidata.org/wiki/Q8067052" class="extiw" title="d:Q8067052">D</a></div><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/ICD-10" title="ICD-10">10</a></b>: G71.8</li><li><b><a href="/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">OMIM</a></b>: <a rel="nofollow" class="external text" href="https://omim.org/entry/609452">609452</a></li><li><b><a href="/wiki/Medical_Subject_Headings" title="Medical Subject Headings">MeSH</a></b>: <a rel="nofollow" class="external text" href="https://meshb.nlm.nih.gov/record/ui?ui=C563718">C563718</a></li></ul></div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">External resources</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/Orphanet" title="Orphanet">Orphanet</a></b>: <a rel="nofollow" class="external text" href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&amp;Expert=98912">98912</a></li></ul></div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Diseases_of_muscle,_neuromuscular_junction,_and_neuromuscular_disease" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><style data-mw-deduplicate="TemplateStyles:r1239400231">.mw-parser-output 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abbr{color:var(--color-base)!important}}@media print{.mw-parser-output .navbar{display:none!important}}</style><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Diseases_of_myoneural_junction_and_muscle" title="Template:Diseases of myoneural junction and muscle"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Diseases_of_myoneural_junction_and_muscle" title="Template talk:Diseases of myoneural junction and muscle"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Diseases_of_myoneural_junction_and_muscle" title="Special:EditPage/Template:Diseases of myoneural junction and muscle"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Diseases_of_muscle,_neuromuscular_junction,_and_neuromuscular_disease" style="font-size:114%;margin:0 4em">Diseases of <a href="/wiki/Muscle" title="Muscle">muscle</a>, <a href="/wiki/Neuromuscular_junction" title="Neuromuscular junction">neuromuscular junction</a>, and <a href="/wiki/Neuromuscular_disease" title="Neuromuscular disease">neuromuscular disease</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Neuromuscular_junction_disease" title="Neuromuscular junction disease">Neuromuscular-</a><br /><a href="/wiki/Neuromuscular_junction_disease" title="Neuromuscular junction disease">junction disease</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Autoimmune" class="mw-redirect" title="Autoimmune">autoimmune</a></i> <ul><li><a href="/wiki/Myasthenia_gravis" title="Myasthenia gravis">Myasthenia gravis</a></li> <li><a href="/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome" title="Lambert–Eaton myasthenic syndrome">Lambert–Eaton myasthenic syndrome</a></li> <li><a href="/wiki/Neuromyotonia" title="Neuromyotonia">Neuromyotonia</a></li></ul></li> <li><a href="/wiki/Congenital_myasthenic_syndrome" title="Congenital myasthenic syndrome">Congenital myasthenic syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Myopathy" title="Myopathy">Myopathy</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Muscular_dystrophy" title="Muscular dystrophy">Muscular dystrophy</a><br />(<a href="/wiki/Dystrophin-associated_protein_complex" title="Dystrophin-associated protein complex">DAPC</a>)</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Autosomal_dominant" class="mw-redirect" title="Autosomal dominant">AD</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Limb-girdle_muscular_dystrophy" class="mw-redirect" title="Limb-girdle muscular dystrophy">Limb-girdle muscular dystrophy 1</a></li> <li><a href="/wiki/Oculopharyngeal_muscular_dystrophy" title="Oculopharyngeal muscular dystrophy">Oculopharyngeal</a></li> <li><a href="/wiki/Facioscapulohumeral_muscular_dystrophy" title="Facioscapulohumeral muscular dystrophy">Facioscapulohumeral</a></li> <li><a href="/wiki/Myotonic_dystrophy" title="Myotonic dystrophy">Myotonic</a></li> <li><a href="/wiki/Distal_muscular_dystrophy" class="mw-redirect" title="Distal muscular dystrophy">Distal (most)</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Autosomal_recessive" class="mw-redirect" title="Autosomal recessive">AR</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Calpainopathy" title="Calpainopathy">Calpainopathy</a></li> <li><a href="/wiki/Limb-girdle_muscular_dystrophy" class="mw-redirect" title="Limb-girdle muscular dystrophy">Limb-girdle muscular dystrophy 2</a></li> <li><a href="/wiki/Congenital_muscular_dystrophy" title="Congenital muscular dystrophy">Congenital</a> <ul><li><a href="/wiki/Fukuyama_congenital_muscular_dystrophy" title="Fukuyama congenital muscular dystrophy">Fukuyama</a></li> <li><a href="/wiki/Ullrich_congenital_muscular_dystrophy" title="Ullrich congenital muscular dystrophy">Ullrich</a></li> <li><a href="/wiki/Walker%E2%80%93Warburg_syndrome" title="Walker–Warburg syndrome">Walker–Warburg</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/X-linked_recessive" class="mw-redirect" title="X-linked recessive">XR</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Dystrophin" title="Dystrophin">dystrophin</a></i> <ul><li><a href="/wiki/Becker%27s_muscular_dystrophy" class="mw-redirect" title="Becker&#39;s muscular dystrophy">Becker's</a></li> <li><a href="/wiki/Duchenne_muscular_dystrophy" title="Duchenne muscular dystrophy">Duchenne</a></li></ul></li> <li><a href="/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy" title="Emery–Dreifuss muscular dystrophy">Emery–Dreifuss</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other structural</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Collagen_disease" title="Collagen disease">collagen disease</a></i> <ul><li><a href="/wiki/Bethlem_myopathy" title="Bethlem myopathy">Bethlem myopathy</a></li></ul></li> <li><i><a href="/wiki/Protein_tyrosine_phosphatase" title="Protein tyrosine phosphatase">PTP disease</a></i> <ul><li><a href="/wiki/X-linked_myotubular_myopathy" title="X-linked myotubular myopathy">X-linked MTM</a></li></ul></li> <li><i><a href="/wiki/Signal_transducing_adaptor_protein" title="Signal transducing adaptor protein">adaptor protein disease</a></i> <ul><li><a href="/wiki/Centronuclear_myopathy" title="Centronuclear myopathy">BIN1-linked centronuclear myopathy</a></li></ul></li> <li><i><a href="/wiki/Cytoskeleton" title="Cytoskeleton">cytoskeleton disease</a></i> <ul><li><a href="/wiki/Nemaline_myopathy" title="Nemaline myopathy">Nemaline myopathy</a></li> <li><a class="mw-selflink selflink">Zaspopathy</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Channelopathy" title="Channelopathy">Channelopathy</a> <ul><li>(ion channel)</li></ul></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Myotonia" title="Myotonia">Myotonia</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <li><a href="/wiki/Myotonia_congenita" title="Myotonia congenita">Myotonia congenita</a> <ul><li><a href="/wiki/Thomsen_disease" class="mw-redirect" title="Thomsen disease">Thomsen disease</a></li> <li><a href="/wiki/Becker_disease" class="mw-redirect" title="Becker disease">Becker disease</a></li></ul></li> <li><a href="/wiki/Neuromyotonia" title="Neuromyotonia">Neuromyotonia</a> <ul><li><a href="/wiki/Isaacs_syndrome" class="mw-redirect" title="Isaacs syndrome">Isaacs syndrome</a></li></ul></li> <li><a href="/wiki/Paramyotonia_congenita" title="Paramyotonia congenita">Paramyotonia congenita</a></li> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Periodic_paralysis" title="Periodic paralysis">Periodic paralysis</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hypokalemic_periodic_paralysis" title="Hypokalemic periodic paralysis">Hypokalemic</a> <ul><li><a href="/wiki/Thyrotoxic_periodic_paralysis" title="Thyrotoxic periodic paralysis">Thyrotoxic</a></li></ul></li> <li><a href="/wiki/Hyperkalemic_periodic_paralysis" title="Hyperkalemic periodic paralysis">Hyperkalemic</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Central_core_disease" title="Central core disease">Central core disease</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">ATPase disorder <ul><li>(ion pump)</li></ul></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <li><a href="/wiki/Brody_myopathy" title="Brody myopathy">Brody disease</a> (<a href="/wiki/ATP2A1" title="ATP2A1">ATP2A1</a>)</li> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Metabolic_myopathy" title="Metabolic myopathy">Metabolic myopathy</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li>Muscle <a href="/wiki/Glycogen_storage_disease" title="Glycogen storage disease">Glycogen storage disease</a></li> <li><a href="/wiki/Fatty-acid_metabolism_disorder" title="Fatty-acid metabolism disorder">Fatty-acid metabolism disorder</a></li> <li><a href="/wiki/Adenosine_monophosphate_deaminase_deficiency_type_1" title="Adenosine monophosphate deaminase deficiency type 1">AMPD1 deficiency</a></li> <li><a href="/wiki/Mitochondrial_myopathy" title="Mitochondrial myopathy">Mitochondrial myopathy</a> (<a href="/wiki/MELAS_syndrome" title="MELAS syndrome">MELAS</a></li> <li><a href="/wiki/MERRF_syndrome" title="MERRF syndrome">MERRF</a></li> <li><a href="/wiki/Kearns%E2%80%93Sayre_syndrome" title="Kearns–Sayre syndrome">KSS</a></li> <li><a href="/wiki/Chronic_progressive_external_ophthalmoplegia" title="Chronic progressive external ophthalmoplegia">PEO</a></li> <li><a href="/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome" title="Mitochondrial neurogastrointestinal encephalopathy syndrome">MNGIE</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Endocrine_disease" title="Endocrine disease">Endocrinopathy</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hypothyroid" class="mw-redirect" title="Hypothyroid">Hypothyroid</a> myopathy <ul><li><a href="/wiki/Kocher%E2%80%93Debre%E2%80%93Semelaigne_syndrome" title="Kocher–Debre–Semelaigne syndrome">Kocher–Debre–Semelaigne syndrome</a></li> <li><a href="/wiki/Hoffmann_syndrome" title="Hoffmann syndrome">Hoffmann syndrome</a></li></ul></li> <li><a href="/wiki/Hyperthyroid" class="mw-redirect" title="Hyperthyroid">Hyperthyroid</a> myopathy <ul><li><a href="/wiki/Thyrotoxic_myopathy" title="Thyrotoxic myopathy">Thyrotoxic myopathy</a></li></ul></li> <li><a href="/wiki/Hypoparathyroidism" title="Hypoparathyroidism">Hypoparathyroid myopathy</a></li> <li><a href="/wiki/Hyperparathyroidism" title="Hyperparathyroidism">Hyperparathyroid myopathy</a></li> <li><a href="/wiki/Hypercortisolism" class="mw-redirect" title="Hypercortisolism">Hypercortisolism</a> <ul><li>Corticosteroid myopathy</li></ul></li> <li>Testosterone deficiency myopathy <ul><li><a href="/wiki/Late-onset_hypogonadism" title="Late-onset hypogonadism">Late-onset hypogonadism</a></li> <li><a href="/wiki/Hypogonadotropic_hypogonadism" title="Hypogonadotropic hypogonadism">Hypogonadotropic hypogonadism</a></li> <li><a href="/wiki/Androgen_deficiency" title="Androgen deficiency">Androgen deficiency</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">General</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Inflammatory_myopathy" title="Inflammatory myopathy">Inflammatory myopathy</a></li> <li><a href="/wiki/Congenital_myopathy" title="Congenital myopathy">Congenital myopathy</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table></div> <p><br /> </p> <style data-mw-deduplicate="TemplateStyles:r1012311289">.mw-parser-output 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