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Myopathy caused by variation in POMT2

MONDO:0700071

Any myopathy in which the cause of the disease is a variation in the POMT2 gene.

Also known as: POMT2 myopathy, POMT2-related myopathy, myopathy caused by mutation in POMT2

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

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Sub-types

Autosomal recessive limb-girdle muscular dystrophy type 2N (1) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 (0) Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 (0)

Broader categories

Disease (618) Nervous system disorder (217) Metabolic disease (215) Musculoskeletal system disorder (196) Hereditary disease (172) Muscle tissue disorder (53) Inborn errors of metabolism (42) Human disease (14) Myopathy (11) Skeletal muscle disorder (8)
Trials to join now! 32 Not yet recruiting 9 Not yet finished but already full! 7 Completed 13 Terminated 1
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