Article
Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1.
Neuromuscular disorders : NMD - 1 Apr 2010
Hung Ryan M, Yoon Grace, Hawkins Cynthia E, Halliday Willliam, Biggar Doug, Vajsar Jiri
Abstract excerpt
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...
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