Myopathy caused by variation in POMGNT2

rare

Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene.

Identifiers: MONDO:0700069
Causal genes: POMGNT2
Part of: Disorder of protein O-glycosylation Hereditary skeletal muscle disorder Myopathy
Also known as: myopathy caused by mutation in POMGNT2 · POMGNT2 myopathy · POMGNT2-related myopathy

Subtypes

Disease	ID	Subtypes
Congenital muscular dystrophy caused by variation in POMGNT2	MONDO:0700075	2

Rare disease

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