Abstract
Myosin Storage Myopathies (MSM) have emerged as a new group of inherited myopathies with heterogenous clinical severity and age of onset. We have identified in a woman and her daughter, a pLeu1793Pro mutation in MYH7. This mutation has already been reported to be associated with MSM presenting as neonatal hypotony. Our index case complained of proximal muscle weakness at age 30. Her daughter presented at birth with a cardiomyopathy without any skeletal muscle involvement. This report underlines the clinical variability of MSM even with a given mutation or in a same family.
MeSH terms
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Amino Acid Substitution / genetics
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Cardiac Myosins / genetics*
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Cardiomyopathies / congenital
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Cardiomyopathies / genetics
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Cardiomyopathies / physiopathology
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DNA Mutational Analysis
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Female
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Genetic Predisposition to Disease / genetics*
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Genetic Variation / genetics
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Genotype
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Heart / physiopathology
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Humans
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Leucine / genetics
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Middle Aged
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Muscle Hypotonia / congenital
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Muscle Hypotonia / genetics
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Muscle Hypotonia / physiopathology
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Muscle, Skeletal / metabolism
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Muscle, Skeletal / pathology
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Muscle, Skeletal / physiopathology*
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Muscular Diseases / genetics*
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Muscular Diseases / metabolism
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Muscular Diseases / physiopathology*
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Mutation / genetics*
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Myocardium / metabolism
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Myocardium / pathology
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Myosin Heavy Chains / genetics*
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Phenotype
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Proline / genetics
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Young Adult
Substances
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MYH7 protein, human
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Proline
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Cardiac Myosins
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Myosin Heavy Chains
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Leucine