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X-linked myotubular myopathy

MONDO:0010683

A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure.

Also known as: MTM, X-linked centronuclear myopathy, X-linked myotubular myopathy, XLCNM, XLMTM, centronuclear myopathy, X-linked, myotubular myopathy, X-linked, X-linked recessive, CNMX

41 clinical trials for this condition and its sub-types.

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Sub-types

Symptomatic form of X-linked centronuclear myopathy in female carriers (0) X-linked myotubular myopathy-abnormal genitalia syndrome (0)

Broader categories

Disease (618) Musculoskeletal system disorder (196) Hereditary disease (172) Muscle tissue disorder (53) X-linked disease (16) Human disease (14) Myopathy (11) Congenital myopathy (8) Skeletal muscle disorder (8) Centronuclear myopathy (2)
Trials to join now! 21 Not yet recruiting 7 Not yet finished but already full! 5 Completed 7 Terminated 1
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