Congenital myopathy with a novel SELN missense mutation and the challenge to differentiate it from congenital muscular dystrophy
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DOI: 10.1016/j.jocn.2018.12.024
Abstract: Multiminicore disease is a myopathy that is pathologically characterized by the presence of multiple areas of small, short, and poorly delineated zones of sarcomeric disorganization lacking mitochondria (minicores) that can be observed in both type… read more here.
Keywords: congenital myopathy; multiminicore disease; congenital muscular; muscular dystrophy ... See more keywords