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GENATLAS PHENOTYPE
last update : 19/07/2006
Symbol MDC1D
Location 22q12
Name muscular dystrophy,congenital, 1D
Corresponding gene LARGE
Main clinical features
  • severe mental retardation, structural brain changes (extensive withe matter abnormalities, or neuronal migration defects), abnormal immunolabelling of alpha-dystroglycan at skeletal muscle biopsy
    • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name like-glycosyltransferase
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown   other failed to glycosylate alpha-dystroglycan and not retained within the Golgi apparatus (but located in what appeared to be secretory vesicles)