CINXE.COM
KEGG DISEASE: Spinal muscular atrophy
<!doctype html> <html><head> <title>KEGG DISEASE: Spinal muscular atrophy</title> <link type="text/css" rel="stylesheet" href="/css/gn2.css?1746058334"> <link type="text/css" rel="stylesheet" href="/css/bget.css?1746058334"> <meta name="viewport" content="width=device-width, initial-scale=1.0"> <link type="text/css" rel="stylesheet" href="/css/bgetm.css?1746058334" media="only screen and (max-width: 768px)"> <style>.kcfd{display:none;}</style> <script> <!-- var getElementsByClassName = document.getElementsByClassName ? function (cl){ return document.getElementsByClassName(cl); } : function (cl){ var elms = []; var objs = document.getElementsByTagName('*'); for(var i=0;i<objs.length;i++){ var obj = objs[i]; if(obj.className == cl){ elms.push(obj); } } return elms; }; function toggleField(clk,cl,show,hide){ var objs = getElementsByClassName(cl); for(var i=0;i<objs.length;i++){ var obj = objs[i]; if(!obj.style.display||obj.style.display == 'none'){ obj.style.display = 'block'; clk.innerHTML = ' « '+hide; } else{ obj.style.display = 'none'; clk.innerHTML = ' » '+show; } } } function toggleData(bobj,e){ var id = bobj.id.replace(/[^0-9]/g,''); var dt = document.getElementById('kcfd'+id); e.preventDefault(); if(!dt.style.display||dt.style.display == 'none'){ document.getElementById('kcfb'+id).innerHTML = 'Hide'; dt.style.display = 'block'; } else{ document.getElementById('kcfb'+id).innerHTML = 'Show'; dt.style.display = 'none'; } } function btn(bobj,img) { bobj.src = "/Fig/bget/button_" + img + ".gif"; } function btn_e(e) { e = e || event; var obj = e.target; var img = e.target.src; var img_base = img.replace(/\\/g,'/').replace(/(b|bd|bh)\.gif$/,''); if(e.type == 'mousedown'||e.type == 'touchstart'){ obj.src = img_base +'bd.gif'; } else if(e.type == 'mouseover'){ obj.src = img_base +'bh.gif'; } else if(e.type == 'mouseup'||e.type == 'touchend'){ obj.src = img_base +'b.gif'; } else if(e.type == 'mouseout'){ obj.src = img_base +'b.gif'; } } function init(){ for(var i=1;i<=1;i++){ if(document.getElementById('kcfb'+i)){ document.getElementById('kcfb'+i).onclick = function(e){toggleData(this,e);}; } } } function Link_XtrctSeq2(form) { var dna_from; var dna_to; var dna_len; var plus_up = Number(form.XtrctSeq_UP.value) ; var plus_down = Number(form.XtrctSeq_DOWN.value); var vector = Number(form.VECTOR.value); var org = form.ORG.value; var chr = form.CHR.value; var kid = form.KEGGID.value; var url; if (plus_up == 0 && plus_down == 0) { url = "/entry/-f+-n+n+" + kid; } else { if (vector == 1) { dna_from = Number(form.FROM.value) - plus_up; dna_to = Number(form.TO.value) + plus_down; } else { dna_from = Number(form.FROM.value) - plus_down; dna_to = Number(form.TO.value) + plus_up; } url = "/dbget-bin/cut_sequence_genes.pl?FROM=" + dna_from + "&TO=" + dna_to +"&VECTOR=" + vector + "&ORG=" + org; if (chr) url += "&CHR=" + chr; } //window.open( url, "_self" ); location.href = url; } function go_taxonomy(form,params){ for(var key in params){ if(form[key]){ form.setAttribute(key,params[key]); } else{ var obj = document.createElement('input'); obj.setAttribute('type','hidden'); obj.setAttribute('name',key); obj.setAttribute('value',params[key]); form.appendChild(obj); } } form.submit(); } window.onload=function(){window.focus();init();}; //---> </script> </head> <body> <div> <table border=0 cellpadding=0 cellspacing=0><tr><td> <table border=0 cellpadding=0 cellspacing=0 width="650"><tr><td width=70><a href="/kegg/disease"><img align="middle" alt="KEGG" border=0 src="/Fig/bget/kegg5.gif"></a></td><td> </td><td><a name="disease:H00455"></a><font class="title5">DISEASE: Spinal muscular atrophy</font></td><td class="tar vbot"><button class="btn" onclick="javascript:void(window.open('/kegg/document/help_bget_disease.html','KEGG_Help','toolbar=no,location=no,directories=no,width=720,height=640,resizable=yes,scrollbars=yes'));return false;">Help</button></td></tr></table><form method="post" action="/entry/" enctype="application/x-www-form-urlencoded" id="form1" name="form1"></form><table class="w1" width="650"> <tr> <td class="fr5 w1"> <table width="650" class="w2"> <tr><th class="th50 deft tal vmid"><span class="nowrap">Entry</span></th> <td class="td50 defd"><table class="w1" width="100%"><tr><td class="tal pd0"><code><span class="nowrap">H00455 Disease <br> </span></code></td></tr></table></td></tr> <tr><th class="th51 deft tal vtop"><span class="nowrap">Name</span></th> <td class="td51 defd"><div class="cel">Spinal muscular atrophy</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Subgroup</span></th> <td class="td50 repd"><div class="cel">Werdning-Hoffman disease (SMA1)<br>Spinal muscular atrophy type II (SMA2)<br>Kugeleberg-Welander disease (SMA3)<br>Spinal muscular atrophy type IV (SMA4)<br>X-linked SMA (SMAX) [DS:<a href="/entry/H00062">H00062</a>]<br>SMA proximal adult autosomal dominant (SMAPAD)<br>SMA, lower extremity-predominant, autosomal dominant (SMALED)<br>Spinal muscular atrophy, infantile, James type (SMAJI)</div></td></tr> <tr><th class="th51 deft tal vtop"><span class="nowrap">Description</span></th> <td class="td51 defd"><div class="cel">Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscle atrophy and paralysis. The most common form of SMA is caused by mutations of the SMN gene, that encodes the SMN protein, which regulates snRNP assembly. Four types of SMA are recognized depending on the age of onset and the severity of the disease: type I (Werdning-Hoffman), type II (intermediate), type III (Kugeleberg-Welander) and type IV (adult form). Other forms of spinal muscular atrophy are caused by mutation of other genes, some known and others not yet defined.<br> </div></td></tr> <tr><th class="th50 deft tal vtop"><span class="nowrap">Category</span></th> <td class="td50 defd"><div class="cel">Neurodegenerative disease<br> </div></td></tr> <tr><th class="th51 deft tal vtop"><span class="nowrap">Brite</span></th> <td class="td51 defd"><div class="cel"><span class="nowrap">Human diseases in ICD-11 classification [BR:<a href="/brite/br08403+H00455">br08403</a>]<br> 08 Diseases of the nervous system<br> Motor neuron diseases or related disorders<br> 8B61 Spinal muscular atrophy<br> H00455 Spinal muscular atrophy<br> Pathway-based classification of diseases [BR:<a href="/brite/br08402+H00455">br08402</a>]<br> Cellular process<br> nt06515 Regulation of kinetochore-microtubule interactions<br> H00455 Spinal muscular atrophy<br> nt06541 Cytoskeleton in neurons<br> H00455 Spinal muscular atrophy<br> </span></div><button class="btn" onclick="location.href='/kegg-bin/search_brite?option=-a&search_string=H00455';return false;">BRITE hierarchy</button></td></tr> <tr><th class="th50 deft tal vtop"><span class="nowrap">Network</span></th> <td class="td50 defd"><div class="cel"><a href="/network/nt06515+H00455">nt06515</a> Regulation of kinetochore-microtubule interactions<br><a href="/network/nt06541+H00455">nt06541</a> Cytoskeleton in neurons</div></td></tr> <tr><th class="th51 deft tal vtop"><span class="nowrap">Gene</span></th> <td class="td51 defd"><div class="cel">(SMA1/2/3/4) SMN1 [HSA:<a href="/entry/hsa:6606">6606</a>] [KO:<a href="/entry/K13129">K13129</a>]<br> (SMA3) SMN2 [HSA:<a href="/entry/hsa:6607">6607</a>] [KO:<a href="/entry/K13129">K13129</a>]<br> (SMAX1) AR [HSA:<a href="/entry/hsa:367">367</a>] [KO:<a href="/entry/K08557">K08557</a>]<br> (SMAX2) UBA1 [HSA:<a href="/entry/hsa:7317">7317</a>] [KO:<a href="/entry/K03178">K03178</a>]<br> (SMAX3) ATP7A [HSA:<a href="/entry/hsa:538">538</a>] [KO:<a href="/entry/K17686">K17686</a>]<br> (SMAPAD) VAPB [HSA:<a href="/entry/hsa:9217">9217</a>] [KO:<a href="/entry/K10707">K10707</a>]<br> (SMALED1) DYNC1H1 [HSA:<a href="/entry/hsa:1778">1778</a>] [KO:<a href="/entry/K10413">K10413</a>]<br> (SMALED2A/2B) BICD2 [HSA:<a href="/entry/hsa:23299">23299</a>] [KO:<a href="/entry/K18739">K18739</a>]<br> (SMAJI) GARS1 [HSA:<a href="/entry/hsa:2617">2617</a>] [KO:<a href="/entry/K01880">K01880</a>]<br> </div></td></tr> <tr><th class="th50 deft tal vtop"><span class="nowrap">Drug</span></th> <td class="td50 defd"><div class="cel">Nusinersen sodium [DR:<a href="/entry/D10791">D10791</a>]<br> Onasemnogene abeparvovec [DR:<a href="/entry/D11559">D11559</a>] (bi-allelic SMN1 mutations)<br> Risdiplam [DR:<a href="/entry/D11406">D11406</a>]<br> </div></td></tr> <tr><th class="th51 deft tal vtop"><span class="nowrap">Comment</span></th> <td class="td51 defd"><div class="cel">See <a href="/entry/H00062">H00062</a> for detail of SMAX1.<br> See also <a href="/entry/H00856">H00856</a> Distal hereditary motor neuropathies (dHMN).<br> </div></td></tr> <tr><th class="th50 deft tal vtop"><span class="nowrap">Other DBs</span></th> <td class="td50 defd"><table class="w1"><tr><td class="vtop pd0"><span class="nowrap">ICD-11: </span></td><td><a href="/brite/br08403+H00455">8B61</a></td></tr></table><table class="w1"><tr><td class="vtop pd0"><span class="nowrap">MeSH: </span></td><td><a href="https://www.ncbi.nlm.nih.gov/mesh/68009134">D009134</a> <a href="https://www.ncbi.nlm.nih.gov/mesh/68014897">D014897</a></td></tr></table><table class="w1"><tr><td class="vtop pd0"><span class="nowrap">OMIM: </span></td><td><a href="https://omim.org/entry/253300">253300</a> <a href="https://omim.org/entry/253550">253550</a> <a href="https://omim.org/entry/253400">253400</a> <a href="https://omim.org/entry/271150">271150</a> <a href="https://omim.org/entry/301830">301830</a> <a href="https://omim.org/entry/300489">300489</a> <a href="https://omim.org/entry/182980">182980</a> <a href="https://omim.org/entry/158600">158600</a> <a href="https://omim.org/entry/615290">615290</a> <a href="https://omim.org/entry/618291">618291</a> <a href="https://omim.org/entry/619042">619042</a></td></tr></table></td></tr> <tr><th class="th51 deft tal vtop"><span class="nowrap">Reference</span></th> <td class="td51 defd"><div class="cel">PMID:<a href="https://www.ncbi.nlm.nih.gov/pubmed/20302191">20302191</a></div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Authors</span></th> <td class="td50 repd"><div class="cel">Stavarachi M, Apostol P, Toma M, Cimponeriu D, Gavrila L</div></td></tr> <tr><th class="th51 rept tal vtop"><span class="nowrap"> Title</span></th> <td class="td51 repd"><div class="cel">Spinal muscular atrophy disease: a literature review for therapeutic strategies.</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Journal</span></th> <td class="td50 repd"><div class="cel">J Med Life 3:3-9 (2010)</div></td></tr> <tr><th class="th51 deft tal vtop"><span class="nowrap">Reference</span></th> <td class="td51 defd"><div class="cel">PMID:<a href="https://www.ncbi.nlm.nih.gov/pubmed/8922999">8922999</a> (SMA1)</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Authors</span></th> <td class="td50 repd"><div class="cel">Parsons DW, McAndrew PE, Monani UR, Mendell JR, Burghes AH, Prior TW</div></td></tr> <tr><th class="th51 rept tal vtop"><span class="nowrap"> Title</span></th> <td class="td51 repd"><div class="cel">An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Journal</span></th> <td class="td50 repd"><div class="cel">Hum Mol Genet 5:1727-32 (1996)<br>DOI:<a href="https://doi.org/10.1093/hmg/5.11.1727">10.1093/hmg/5.11.1727</a></div></td></tr> <tr><th class="th51 deft tal vtop"><span class="nowrap">Reference</span></th> <td class="td51 defd"><div class="cel">PMID:<a href="https://www.ncbi.nlm.nih.gov/pubmed/9158159">9158159</a> (SMA2 SMA3)</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Authors</span></th> <td class="td50 repd"><div class="cel">Hahnen E, Schonling J, Rudnik-Schoneborn S, Raschke H, Zerres K, Wirth B</div></td></tr> <tr><th class="th51 rept tal vtop"><span class="nowrap"> Title</span></th> <td class="td51 repd"><div class="cel">Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Journal</span></th> <td class="td50 repd"><div class="cel">Hum Mol Genet 6:821-5 (1997)<br>DOI:<a href="https://doi.org/10.1093/hmg/6.5.821">10.1093/hmg/6.5.821</a></div></td></tr> <tr><th class="th51 deft tal vtop"><span class="nowrap">Reference</span></th> <td class="td51 defd"><div class="cel">PMID:<a href="https://www.ncbi.nlm.nih.gov/pubmed/7658877">7658877</a> (SMA4)</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Authors</span></th> <td class="td50 repd"><div class="cel">Brahe C, Servidei S, Zappata S, Ricci E, Tonali P, Neri G</div></td></tr> <tr><th class="th51 rept tal vtop"><span class="nowrap"> Title</span></th> <td class="td51 repd"><div class="cel">Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy.</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Journal</span></th> <td class="td50 repd"><div class="cel">Lancet 346:741-2 (1995)<br>DOI:<a href="https://doi.org/10.1016/s0140-6736(95)91507-9">10.1016/s0140-6736(95)91507-9</a></div></td></tr> <tr><th class="th51 deft tal vtop"><span class="nowrap">Reference</span></th> <td class="td51 defd"><div class="cel">PMID:<a href="https://www.ncbi.nlm.nih.gov/pubmed/19716110">19716110</a> (SMA3)</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Authors</span></th> <td class="td50 repd"><div class="cel">Prior TW, Krainer AR, Hua Y, Swoboda KJ, Snyder PC, Bridgeman SJ, Burghes AH, Kissel JT</div></td></tr> <tr><th class="th51 rept tal vtop"><span class="nowrap"> Title</span></th> <td class="td51 repd"><div class="cel">A positive modifier of spinal muscular atrophy in the SMN2 gene.</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Journal</span></th> <td class="td50 repd"><div class="cel">Am J Hum Genet 85:408-13 (2009)<br>DOI:<a href="https://doi.org/10.1016/j.ajhg.2009.08.002">10.1016/j.ajhg.2009.08.002</a></div></td></tr> <tr><th class="th51 deft tal vtop"><span class="nowrap">Reference</span></th> <td class="td51 defd"><div class="cel">PMID:<a href="https://www.ncbi.nlm.nih.gov/pubmed/2062380">2062380</a> (SMAX1)</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Authors</span></th> <td class="td50 repd"><div class="cel">La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH</div></td></tr> <tr><th class="th51 rept tal vtop"><span class="nowrap"> Title</span></th> <td class="td51 repd"><div class="cel">Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Journal</span></th> <td class="td50 repd"><div class="cel">Nature 352:77-9 (1991)<br>DOI:<a href="https://doi.org/10.1038/352077a0">10.1038/352077a0</a></div></td></tr> <tr><th class="th51 deft tal vtop"><span class="nowrap">Reference</span></th> <td class="td51 defd"><div class="cel">PMID:<a href="https://www.ncbi.nlm.nih.gov/pubmed/18179898">18179898</a> (SMAX2)</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Authors</span></th> <td class="td50 repd"><div class="cel">Ramser J, Ahearn ME, Lenski C, Yariz KO, Hellebrand H, von Rhein M, Clark RD, Schmutzler RK, Lichtner P, Hoffman EP, Meindl A, Baumbach-Reardon L</div></td></tr> <tr><th class="th51 rept tal vtop"><span class="nowrap"> Title</span></th> <td class="td51 repd"><div class="cel">Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Journal</span></th> <td class="td50 repd"><div class="cel">Am J Hum Genet 82:188-93 (2008)<br>DOI:<a href="https://doi.org/10.1016/j.ajhg.2007.09.009">10.1016/j.ajhg.2007.09.009</a></div></td></tr> <tr><th class="th51 deft tal vtop"><span class="nowrap">Reference</span></th> <td class="td51 defd"><div class="cel">PMID:<a href="https://www.ncbi.nlm.nih.gov/pubmed/20170900">20170900</a> (SMAX3)</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Authors</span></th> <td class="td50 repd"><div class="cel">Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, Llanos RM, Chu S, Takata RI, Speck-Martins CE, Baets J, Almeida-Souza L, Fischer D, Timmerman V, Taylor PE, Scherer SS, Ferguson TA, Bird TD, De Jonghe P, Feely SM, Shy ME, Garbern JY</div></td></tr> <tr><th class="th51 rept tal vtop"><span class="nowrap"> Title</span></th> <td class="td51 repd"><div class="cel">Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Journal</span></th> <td class="td50 repd"><div class="cel">Am J Hum Genet 86:343-52 (2010)<br>DOI:<a href="https://doi.org/10.1016/j.ajhg.2010.01.027">10.1016/j.ajhg.2010.01.027</a></div></td></tr> <tr><th class="th51 deft tal vtop"><span class="nowrap">Reference</span></th> <td class="td51 defd"><div class="cel">PMID:<a href="https://www.ncbi.nlm.nih.gov/pubmed/15372378">15372378</a> (SMAPAD)</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Authors</span></th> <td class="td50 repd"><div class="cel">Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JR, Gillingwater T, Webb J, Skehel P, Zatz M</div></td></tr> <tr><th class="th51 rept tal vtop"><span class="nowrap"> Title</span></th> <td class="td51 repd"><div class="cel">A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Journal</span></th> <td class="td50 repd"><div class="cel">Am J Hum Genet 75:822-31 (2004)<br>DOI:<a href="https://doi.org/10.1086/425287">10.1086/425287</a></div></td></tr> <tr><th class="th51 deft tal vtop"><span class="nowrap">Reference</span></th> <td class="td51 defd"><div class="cel">PMID:<a href="https://www.ncbi.nlm.nih.gov/pubmed/22459677">22459677</a> (SMALED1)</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Authors</span></th> <td class="td50 repd"><div class="cel">Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH</div></td></tr> <tr><th class="th51 rept tal vtop"><span class="nowrap"> Title</span></th> <td class="td51 repd"><div class="cel">Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Journal</span></th> <td class="td50 repd"><div class="cel">Neurology 78:1714-20 (2012)<br>DOI:<a href="https://doi.org/10.1212/WNL.0b013e3182556c05">10.1212/WNL.0b013e3182556c05</a></div></td></tr> <tr><th class="th51 deft tal vtop"><span class="nowrap">Reference</span></th> <td class="td51 defd"><div class="cel">PMID:<a href="https://www.ncbi.nlm.nih.gov/pubmed/23664116">23664116</a> (SMALED2A)</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Authors</span></th> <td class="td50 repd"><div class="cel">Neveling K, Martinez-Carrera LA, Holker I, Heister A, Verrips A, Hosseini-Barkooie SM, Gilissen C, Vermeer S, Pennings M, Meijer R, te Riele M, Frijns CJ, Suchowersky O, MacLaren L, Rudnik-Schoneborn S, Sinke RJ, Zerres K, Lowry RB, Lemmink HH, Garbes L, Veltman JA, Schelhaas HJ, Scheffer H, Wirth B</div></td></tr> <tr><th class="th51 rept tal vtop"><span class="nowrap"> Title</span></th> <td class="td51 repd"><div class="cel">Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Journal</span></th> <td class="td50 repd"><div class="cel">Am J Hum Genet 92:946-54 (2013)<br>DOI:<a href="https://doi.org/10.1016/j.ajhg.2013.04.011">10.1016/j.ajhg.2013.04.011</a></div></td></tr> <tr><th class="th51 deft tal vtop"><span class="nowrap">Reference</span></th> <td class="td51 defd"><div class="cel">PMID:<a href="https://www.ncbi.nlm.nih.gov/pubmed/27751653">27751653</a> (SMALED2B)</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Authors</span></th> <td class="td50 repd"><div class="cel">Ravenscroft G, Di Donato N, Hahn G, Davis MR, Craven PD, Poke G, Neas KR, Neuhann TM, Dobyns WB, Laing NG</div></td></tr> <tr><th class="th51 rept tal vtop"><span class="nowrap"> Title</span></th> <td class="td51 repd"><div class="cel">Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Journal</span></th> <td class="td50 repd"><div class="cel">Neuromuscul Disord 26:744-748 (2016)<br>DOI:<a href="https://doi.org/10.1016/j.nmd.2016.09.009">10.1016/j.nmd.2016.09.009</a></div></td></tr> <tr><th class="th51 deft tal vtop"><span class="nowrap">Reference</span></th> <td class="td51 defd"><div class="cel">PMID:<a href="https://www.ncbi.nlm.nih.gov/pubmed/32181591">32181591</a> (SMAJI)</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Authors</span></th> <td class="td50 repd"><div class="cel">Markovitz R, Ghosh R, Kuo ME, Hong W, Lim J, Bernes S, Manberg S, Crosby K, Tanpaiboon P, Bharucha-Goebel D, Bonnemann C, Mohila CA, Mizerik E, Woodbury S, Bi W, Lotze T, Antonellis A, Xiao R, Potocki L</div></td></tr> <tr><th class="th51 rept tal vtop"><span class="nowrap"> Title</span></th> <td class="td51 repd"><div class="cel">GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.</div></td></tr> <tr><th class="th50 rept tal vtop"><span class="nowrap"> Journal</span></th> <td class="td50 repd"><div class="cel">Am J Med Genet A 182:1167-1176 (2020)<br>DOI:<a href="https://doi.org/10.1002/ajmg.a.61544">10.1002/ajmg.a.61544</a></div></td></tr> <tr><th class="th51 deft tal vmid"><span class="nowrap">LinkDB</span></th> <td class="td51 defd"><button class="btn" onclick="location.href='https://www.genome.jp/dbget-bin/get_linkdb?disease+H00455';return false;">All DBs</button></td></tr> </table></td></tr></table> <br><span style="font-size:12px"><a href="/entry/ds_ja:H00455">» Japanese version</a></span><br><br></td></tr></table> <a href="/dbget/">DBGET</a> integrated database retrieval system</div> </body> </html>