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GENATLAS PHENOTYPE
last update : 26-02-2011
Symbol MDC1C
Location 19q13.32
Name muscular dystrophy, congenital, C
Corresponding gene FKRP
Main clinical features
  • early onset, inability to walk, muscle hypertrophy and normal brain, structure and function, generally normal mental development, early death in any neonatal cases
  • associated with reduction of alpha dystroglycan, laminin alpha 2 (merosin), highly elevated CK and in any cases to mental retardation, and cerebellar cysts with severe depletion of alpha dystroglycan, round face, hypertrophic tongue, mummified hand
    • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name fukutin-related protein (FKRP)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   other ER-retained protein with shorter half-life and preferentially degraded by the proteasome
    Remark(s)
  • alteration of the secretion pathway by different mutations and spontaneous read-through of nonsense mutation may contribute to wide variations in phenotypes associated with FKRP-related diseases (PMID: 19900540))