Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male
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DOI: 10.1016/j.nmd.2017.05.004
Abstract: X-linked recessive myotubular myopathy (XLMTM) is a disorder associated with mutations in the myotubularin gene (MTM1) that usually affects boys, with transmission of the mutated allele from the mother. Here we describe a family with… read more here.
Keywords: mosaicism; mtm1; necklace fibers; grand paternal ... See more keywords