Abstract
Myosin storage myopathy is a congenital myopathy characterized by subsarcolemmal hyaline bodies in type 1 muscle fibers, which are ATPase positive and thus contain myosin. Mutations recently were identified in the type 1 muscle fiber myosin gene (MYH7) in Swedish and Saudi families with myosin storage myopathy. The authors have identified the arginine 1845 tryptophan mutation found in the Swedish families in two isolated Belgian cases, indicating a critical role for myosin residue arginine 1845.
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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Adult
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Amino Acid Substitution*
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Belgium
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Cardiac Myosins
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Female
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Humans
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Hyalin / chemistry
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Inclusion Bodies / chemistry
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Male
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Middle Aged
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Muscle Fibers, Slow-Twitch / chemistry
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Muscle Fibers, Slow-Twitch / pathology
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Muscle Weakness / genetics
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Muscle Weakness / metabolism
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Muscular Diseases / genetics*
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Muscular Diseases / metabolism
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Mutation, Missense*
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Myosin Heavy Chains / chemistry
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Myosin Heavy Chains / genetics*
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Myosin Heavy Chains / physiology
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Myosins / metabolism*
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Point Mutation*
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Protein Conformation
Substances
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MYH7 protein, human
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Cardiac Myosins
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Myosin Heavy Chains
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Myosins