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Myopathy caused by variation in POMT1

MONDO:0700070

Any myopathy in which the cause of the disease is a variation in the POMT1 gene.

Also known as: POMT1 myopathy, POMT1-related myopathy, myopathy caused by mutation in POMT1

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

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Sub-types

Autosomal recessive limb-girdle muscular dystrophy type 2K (1) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 (0) Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 (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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