【摘 要】
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Introduction Myosin storage myopathy is a rare congenital myopathy characterized by subsarcolemmal hyaline bodies (HB) in type 1 muscle fibres, due to mutation
【机 构】
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NationalNeuroscienceInstitute
【出 处】
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The 12th Annual Asian and Oceanian Myology Center (AOMC)Scie
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Introduction Myosin storage myopathy is a rare congenital myopathy characterized by subsarcolemmal hyaline bodies (HB) in type 1 muscle fibres, due to mutation in MYH7 gene.The clinical spectrum is diverse and includes asymptomatic hyperCKemia, hypotonia in infancy, and scapuloperoneal weakness in adults.
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