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Neuromuscul Disord. 2006 Oct;16(9-10):548-52. Epub 2006 Sep 1.

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.

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Unit of Molecular Medicine and Pathology, Dept. of Laboratory Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.


We report on a 2-year-old male child with both nemaline myopathy and hypertrophic cardiomyopathy (HCM). Sequencing of the ACTA1 gene showed a "de novo" missense heterozygous mutation a>g in exon 7 (Lys336Glu). Two-dimensional electrophoresis showed 28% mutant actin present in his muscle biopsy. Actin was isolated from the muscle biopsy and examined by in vitro motility assay. The sliding speed was 13+/-3% less than normal and the affinity of actin for the Z-line protein alpha-actinin was reduced 10 fold. This is the first report on a hypertrophic cardiomyopathy associated with nemaline myopathy and an ACTA1 mutation.

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