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Nemaline myopathy presenting as cardiomyopathy

✍ Scribed by C. Meier; W. Voellmy; M. Gertsch; A. Zimmermann

Book ID: 115865492
Publisher: Elsevier Science
Year: 1983
Tongue: English
Weight: 57 KB
Volume: 56
Category: Article
ISSN: 0013-4694
DOI: 10.1016/0013-4694(83)92254-x

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## Abstract Nemaline myopathy is a rare disorder of varying severity and genetic etiology. We present two cases, a father and son, with a novel missense mutation in the alpha actin gene. Both have a history of early motor impairment, with the son's course being considerably more severe. This pair i