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FKTN gene mutation; fukutin gene mutation
Clinical significance:
defects in FKTN are the cause of
1) Fukuyama congenital muscular dystrophy (FCMD)
a) reduced expression in FCMD brains
b) neurons in regions with no dysplasia show fair expression, whereas transcripts are nearly undetectable in the overmigrated dysplastic region
2) muscular dystrophy-dystroglycanopathy MDDGB4
3) muscular dystrophy-dystroglycanopathy limb-girdle type C4
4) dilated cardiomyopathy type 1X
5) Walker-Warburg syndrome
Related
fukutin; Fukuyama-type congenital muscular dystrophy protein (FKTN, FCMD)
General
gene mutation testing; gene mutation analysis
References
Loinc