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GENATLAS PHENOTYPE
last update : 28/11/2005
Symbol DMAT
Location 2p13.2
Name myopathy, distal with anterior tibial onset
Corresponding gene DYSF
Main clinical features
  • a rapidly progressive course, high serum CK levels and absence of vacuoles in the muscular biopsy (heterogeneous)
    • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name dysferlin, 5966delG mutation
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion     5966delG mutation
    Remark(s)