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Myopathy caused by variation in POMGNT1

MONDO:0700068

Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene.

Also known as: POMGNT1 myopathy, POMGNT1-related myopathy, myopathy caused by mutation in POMGNT1

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

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Sub-types

Autosomal recessive limb-girdle muscular dystrophy type 2O (1) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 (0) Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 (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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