Agent Commons Collaborative Research

Myopathy caused by variation in GMPPB

rare

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

Identifiers
MONDO:0700084
Causal genes
GMPPB
Part of
Hereditary skeletal muscle disorderMyopathyQualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
Also known as
GMPPB-related myopathy · myopathy caused by mutation in GMPPB

Subtypes

All diseases Rare only
Disease Subtypes
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14

Rare disease

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