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 alpha-actinin was reduced 10 fold. This is the first report on a hypertrophic cardiomyopathy associated with nemaline myopathy and an ACTA1 mutation.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Actinin / metabolism
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Actins / genetics*
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Amino Acid Substitution / genetics
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Cardiomyopathy, Hypertrophic, Familial / complications
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Cardiomyopathy, Hypertrophic, Familial / genetics*
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Cardiomyopathy, Hypertrophic, Familial / physiopathology
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Child, Preschool
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DNA Mutational Analysis
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Fatal Outcome
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Genetic Predisposition to Disease / genetics
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Genetic Testing
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Glutamic Acid / genetics
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Humans
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Lysine / genetics
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Male
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Muscle Contraction / genetics
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Muscle Fibers, Skeletal / metabolism
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Muscle Fibers, Skeletal / pathology
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Muscle, Skeletal / metabolism*
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Muscle, Skeletal / pathology
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Mutation, Missense / genetics*
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Myocardium / metabolism*
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Myocardium / pathology
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Myopathies, Nemaline / complications
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Myopathies, Nemaline / genetics*
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Myopathies, Nemaline / physiopathology
Substances
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Actins
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Actinin
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Glutamic Acid
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Lysine