2013Neuromuscular DisordersRequires access

P.9.2 Autosomal dominant nemaline myopathy with marked intrafamilial phenotypic variability

J.S. Park, Jin‐Hong Shin, Sun Jae Hwang, D.S. Kim

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Key concepts: Nemaline myopathy, Hypotonia, Congenital myopathy, Muscle Hypotonia, Muscle biopsy, Proband, Compound heterozygosity, Myopathy

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