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Welcome. Myotubular Myopathy is a rare muscle condition which affects mostly boys at birth, and sometimes an even rarer form develops later in life affecting both boys and girls. It causes profound muscle weakness.
Samson et al. (1995) reported a family with a single case of myotubular myopathy in which linkage analysis, combined with examination of muscle biopsies in females for a determination of carrier status, led them to 'strongly suggest genetic heterogeneity' of this X-linked disorder.