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GENATLAS PHENOTYPE
last update : 26-02-2011
Symbol LGMD2I
Location 19q13.32
Name limb girdle muscular dystrophy 2I
Corresponding gene FKRP
Other symbol(s) LGMD2I
Main clinical features
  • characterized by and an early onset (childhood or adolescence), symetrical progressive weakness, muscle hypertrophy and no brain involvement, dilated cardiomyopathy, with a reduction of laminin A2 (merosin) and alpha-dystroglycan
  • including several forms, asymptomatic hyperCKemia, severe early-onset muscular dystrophy, and mild late-onset muscular dystrophy
    • Genetic determination autosomal recessive
    Function/system disorder
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function 826C>A, with protein predominantly in the Golgi
    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))
    • Genotype/Phenotype correlations common C826A mutation rarely associated to isolated dilated cardiomyopathy as the only clinical manifestation