Article
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.
Neuromuscular disorders : NMD - 1 Oct 2006
D'Amico Adele, Graziano Claudio, Pacileo Giuseppe, Petrini Stefania, Nowak Kristen J, Boldrini Renata, Jacques Adam, Feng Juan-Juan, Porfirio Berardino, Sewry Caroline A, Santorelli Filippo M, Limongelli Giuseppe, Bertini Enrico, Laing Nigel, Marston Steven B
Abstract excerpt
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...
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