Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

Adele D'Amico, Claudio Graziano, Giuseppe Pacileo, Stefania Petrini, Kristen J. Nowak, Renata Boldrini, Adam Jacques, Juan Juan Feng, Berardino Porfirio, Caroline A. Sewry, Filippo M. Santorelli, Giuseppe Limongelli, Enrico Bertini, Nigel Laing, Steven B. Marston

Research output: Contribution to journalArticlepeer-review


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 α-actinin was reduced 10 fold. This is the first report on a hypertrophic cardiomyopathy associated with nemaline myopathy and an ACTA1 mutation.

Original languageEnglish
Pages (from-to)548-552
Number of pages5
JournalNeuromuscular Disorders
Issue number9-10
Publication statusPublished - Oct 2006


  • ACTA1
  • Hypertrophic cardiomyopathy
  • Mutation
  • Nemaline myopathy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology


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