Myosin storage myopathy:: Slow skeletal myosin (MYH7) mutation in two isolated cases

被引：40

作者：

Laing, NG

Ceuterick-de Groote, C

Dye, DE

Liyanage, K

Duff, RM

Dubois, B

Robberecht, W

Sciot, R

Martin, JJ

Goebel, HH

机构：

[1] Univ Western Australia, Ctr Neuromuscular & Neurol Disorders, Australian Neuromuscular Res Inst, QEII Med Ctr, Nedlands, WA 6009, Australia

[2] Univ Western Australia, Ctr Neuromuscular & Neurol Disorders, Med Res Ctr, QEII Med Ctr, Nedlands, WA 6009, Australia

[3] Born Bunge Fdn, Dept Neuropathol & EM, Antwerp, Belgium

[4] Univ Antwerp, Antwerp, Belgium

[5] Katholieke Univ Leuven, Univ Hosp, Dept Neurol, Louvain, Belgium

[6] Katholieke Univ Leuven, Univ Hosp, Dept Pathol, Louvain, Belgium

[7] Univ Mainz, Med Ctr, Dept Neuropathol, Mainz, Germany

来源：

NEUROLOGY | 2005年 / 64卷 / 03期

关键词：

D O I：

10.1212/01.WNL.0000150581.37514.30

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Myosin storage myopathy is a congenital myopathy characterized by subsarcolemmal hyaline bodies in type 1 muscle fibers, which are ATPase positive and thus contain myosin. Mutations recently were identified in the type 1 muscle fiber myosin gene (MYH7) in Swedish and Saudi families with myosin storage myopathy. The authors have identified the arginine 1845 tryptophan mutation found in the Swedish families in two isolated Belgian cases, indicating a critical role for myosin residue arginine 1845.

引用

页码：527 / 529

页数：3

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