Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy
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DOI: 10.1002/mgg3.621
Abstract: X‐linked myotubular myopathy (XLMTM) is a form of the severest congenital muscle diseases characterized by marked muscle weakness, hypotonia, and feeding and breathing difficulties in male infants. It is caused by mutations in the myotubularin… read more here.
Keywords: pathogenic variants; linked myotubular; mtm1 pathogenic; three novel ... See more keywords