Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course
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Early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) is caused by homozygous or compound heterozygous mutation in the MEGF10 gene (OMIM #614399). Phenotypic spectrum of EMARDD is variable, ranging from severe infantile forms in which p... ...
