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GENATLAS PHENOTYPE
last update : 20-01-2015
Symbol LGMD2N
Location 14q24.3
Name limb girdle muscular dystrophy 2N
Other name(s) muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
Corresponding gene POMT2
Other symbol(s) MDDGC2
Main clinical features
  • early-onset , mild limb-girdle muscular dystrophy phenotype, marked elevated serum creatine kinase levels, and absence of brain involvement
  • muscle biopsy revealed myopathic and inflammatory changes and severe alpha-dystroglycan reduction
    • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s)
  • mutations in fukutin cause abnormal glycosylation of cell surface alpha-dystroglycan which in turn reduces its laminin-binding activity (PMID: 22771323))