X-linked myotubular myopathy

X-linked myotubular myopathy
Other namesXLMTM
This condition is inherited in an X-linked recessive manner.

X-linked myotubular myopathy (MTM) is a form of centronuclear myopathy (CNM) associated with mutations in the myotubularin 1 gene. It is found almost always in male infants. It is one of the severest congenital muscle diseases and is characterized by marked muscle weakness, hypotonia and feeding and breathing difficulties.

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