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Diseases / Disease of genetic or genomic mechanism/ Hereditary disease/ Hereditary skeletal muscle disorder

Myopathy caused by variation in FKRP

rare

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

Identifiers: MONDO:0700066
Causal genes: FKRP
Part of: Disorder of protein O-glycosylation Hereditary skeletal muscle disorder Myopathy
Also known as: FKRP myopathy · FKRP-related myopathy · myopathy caused by mutation in FKRP

Subtypes

All diseases Rare only

Disease

Autosomal recessive limb-girdle muscular dystrophy type 2I MONDO:0011787
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 MONDO:0013157
Muscular dystrophy-dystroglycanopathy type B5 MONDO:0011688

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