Abstract
Myopathies with pathological protein aggregates comprise a numerically significant group of sporadic and hereditary muscle disorders. A rare disease entity within the group of protein aggregate myopathies is the myosin storage myopathy, which is caused by heterozygous mutations in the MYH7 gene which encodes the slow/beta-myosin heavy chain. We report the clinical, myopathological and MRI findings in the first German patient suffering from a myosin storage myopathy due to a heterozygous R 1845W missense mutation.
Publication types
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Case Reports
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English Abstract
MeSH terms
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Adult
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Cardiac Myosins / genetics*
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DNA / genetics
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DNA Mutational Analysis
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Humans
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Hyaline Cartilage / pathology
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Magnetic Resonance Imaging
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Male
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Metabolic Diseases / genetics*
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Metabolic Diseases / metabolism*
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Metabolic Diseases / pathology
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Muscle, Skeletal / pathology
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Muscular Diseases / genetics*
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Muscular Diseases / metabolism*
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Muscular Diseases / pathology
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Mutation, Missense / genetics
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Myosin Heavy Chains / genetics*
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Myosins / genetics*
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Myosins / metabolism*
Substances
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MYH7 protein, human
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DNA
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Cardiac Myosins
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Myosin Heavy Chains
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Myosins