X-linked myotubular myopathy

X-linked myotubular myopathy (MTM) is a form of centronuclear myopathy (CNM) associated with mutations in the myotubularin 1 gene. It is predominantly found in male infants. It is one of the most severe forms of congenital muscle disease, characterized by marked muscle weakness, hypotonia, and difficulty with feeding and breathing. Abbreviations such as XL-MTM, XLMTM or X-MTM are sometimes used to emphasize that the mutation occurs on the X chromosome.

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