Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1

被引：40

作者：

Hung, Ryan M. ^{[1
,4
]}

Yoon, Grace ^{[1
,2
]}

Hawkins, Cynthia E. ^{[3
]}

Halliday, Willliam ^{[3
]}

Biggar, Doug ^{[4
]}

Vajsar, Jiri ^{[1
]}

机构：

[1] Hosp Sick Children, Dept Pediat, Div Neurol, Toronto, ON M5G 1X8, Canada

[2] Hosp Sick Children, Dept Pediat, Div Clin Metab Genet, Toronto, ON M5G 1X8, Canada

[3] Hosp Sick Children, Dept Pathol, Toronto, ON M5G 1X8, Canada

[4] Bloorviews Kids Rehab, Pediat, Toronto, ON, Canada

来源：

NEUROMUSCULAR DISORDERS | 2010年 / 20卷 / 04期

关键词：

Cap; Myopathy; ACTA1; CONGENITAL MYOPATHY; DISEASE; TPM2;

D O I：

10.1016/j.nmd.2010.01.011

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

Cap myopathy is a congenital myopathy with cap-like structures under the sarcolemma. Mutations in TPM2 and TPM3 genes have been reported in cap myopathy so far. We report a newborn boy with persistent profound weakness who required gastro-jejunal tube feeding, tracheostomy and life-long ventilation until he died at 5 years of age. Muscle biopsy at 5 weeks of age was uninformative. Repeat biopsy at 4.5 years revealed subsarcolemmally located caps that were immunopositive for alpha-actinin, actin and to some extent, desmin. EM confirmed loosely arranged thin filaments and paucity of thick filaments. Molecular analysis of ACTA1 gene identified a novel de novo Met47Val mutation. In addition to a new ACTA 1 gene mutation, our case emphasizes the genetic heterogeneity of cap myopathy and its association with ACTA1 gene as well as the importance of repeat muscle biopsy in patients with undiagnosed muscle weakness. (C) 2010 Elsevier B.V. All rights reserved.

引用

页码：238 / 240

页数：3

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