FKTN gene mutation; fukutin gene mutation

Clinical significance

defects in FKTN are the cause of

• Fukuyama congenital muscular dystrophy (FCMD)
  • reduced expression in FCMD brains
  • neurons in regions with no dysplasia show fair expression, whereas transcripts are nearly undetectable in the overmigrated dysplastic region
• muscular dystrophy-dystroglycanopathy MDDGB4
• muscular dystrophy-dystroglycanopathy limb-girdle type C4
• dilated cardiomyopathy type 1X
• Walker-Warburg syndrome

More general terms

• gene mutation testing; gene mutation analysis

Additional terms

• fukutin; Fukuyama-type congenital muscular dystrophy protein (FKTN, FCMD)