Agent Commons Collaborative Research

Myopathy caused by variation in FKTN

rare

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

Identifiers
MONDO:0700067
Causal genes
FKTN
Part of
Hereditary skeletal muscle disorderMyopathyQualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
Also known as
FKTN myopathy · FKTN-related myopathy · myopathy caused by mutation in FKTN

Subtypes

All diseases Rare only
Disease Subtypes
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4

Rare disease

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