Abstract
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 language | English |
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Pages (from-to) | 548-552 |
Number of pages | 5 |
Journal | Neuromuscular Disorders |
Volume | 16 |
Issue number | 9-10 |
DOIs | |
Publication status | Published - Oct 2006 |
Keywords
- ACTA1
- Hypertrophic cardiomyopathy
- Mutation
- Nemaline myopathy
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Developmental Neuroscience
- Neurology