'Cap myopathy':: Case report of a family

被引：15

作者：

Cuisset, JM ^{[1
]}

Maurage, CA

Pellissier, J

Barois, A

Urtizberea, JA

Laing, N

Tajsharghi, H

Vallée, L

机构：

[1] Ctr Hosp Reg Univ, Serv Neuropediat, F-59037 Lille, France

[2] Fac Med Lille, F-59037 Lille, France

[3] Ctr Hosp Reg Univ, Serv Anat Pathol, Lille, France

[4] Ctr Hosp Univ, JE 2053, Lab Biopathol Neuromusculaire, Marseille, France

[5] Fac Med Timone, Marseille, France

[6] Hop Ray Poincare, Serv Reanimat Pediat, Garches, France

[7] Hop La Pitie Salpetriere, Inst Myol, Paris, France

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

[9] Sahlgrenska Univ Hosp, Dept Pathol, Gothenburg, Sweden

来源：

NEUROMUSCULAR DISORDERS | 2006年 / 16卷 / 04期

关键词：

cap myopathy; nemaline myopathy;

D O I：

10.1016/j.nmd.2006.01.014

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report the observation of an 18-year-old girl, whose clinical presentation was very suggestive of a congenital myopathy with neonatal onset. A congenital myopathy had been already diagnosed in her brother and in addition her half-cousin died diagnosed with a severe nemaline myopathy at age 4 years. A muscle biopsy performed on both siblings revealed histological and ultrastructural features of 'cap myopathy'. This case report suggests that 'cap myopathy' and some cases of nemaline myopathy with neonatal onset might be two phenotypic expressions of the same genetic disorder. These two entities could therefore, perhaps, be regarded as 'Z-line disorders' possibly caused by defective myofibrillogenesis. (C) 2006 Elsevier B.V. All rights reserved.

引用

页码：277 / 281

页数：5

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