Abstract
Myosin storage myopathy/hyaline body myopathy is a rare congenital myopathy, with less than 30 cases reported in the literature. It is characterised by the presence of subsarcolemmal hyaline bodies in type 1 muscle fibres and predominantly proximal muscle weakness. Recently, a single mutation (Arg1845Trp) in the slow/beta-cardiac myosin heavy chain gene (MYH7) was identified in four unrelated probands from Sweden and Belgium. The clinical severity and age of onset was variable, despite the same disease-causing mutation and similar histological findings. Here, we report the clinical and morphological findings of two brothers of English/Scottish background with the Arg1845Trp mutation in MYH7. This case report adds to the clinical description of this rare disorder and confirms that Arg1845Trp is a common mutation associated with this phenotype, at least in the White European population.
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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Amino Acid Substitution / genetics
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Australia
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Cardiac Myosins / genetics*
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DNA Mutational Analysis
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Disease Progression
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Genetic Predisposition to Disease / genetics*
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Genotype
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Humans
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Hyalin / metabolism*
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Hyalin / ultrastructure
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Male
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Microscopy, Electron, Transmission
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Middle Aged
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Muscle Weakness / ethnology
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Muscle Weakness / genetics
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Muscle Weakness / metabolism
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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 Atrophy / ethnology
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Muscular Atrophy / genetics
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Muscular Atrophy / metabolism
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Muscular Diseases / ethnology
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Muscular Diseases / genetics*
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Muscular Diseases / metabolism
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Mutation / genetics*
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Myosin Heavy Chains / genetics*
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Phenotype
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United Kingdom / ethnology
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White People / ethnology
Substances
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MYH7 protein, human
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Cardiac Myosins
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Myosin Heavy Chains