Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTAI)

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作者
Wallefeld, William
Sabine, Krause
Nowak, Kristen
Horvath, Rita
Molnar, Zoltan
Szabo, Miklos
Nishino, Ichizo
Lochmueller, Harms
Laing, Nigel
机构
[1] Univ Western Australia, Western Australian Inst Med Res, Queen Elizabeth II Med Ctr, Mol Neurogenet Lab,Ctr Med Res, Nedlands, WA 6009, Australia
[2] Univ Munich, Mol Myol Lab, Friedrich Baur Inst, Dept Neurol, D-81377 Munich, Germany
[3] Semmelweis Univ, Dept Pediat 1, Budapest, Hungary
[4] NCNP, Natl Inst Neurosci, Dept Neuromuscular Res, Tokyo 1878502, Japan
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R74 [神经病学与精神病学];
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页码:S87 / S88
页数:2
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