Limb-girdle muscular dystrophy 2C: clinical aspects

Neuromuscul Disord. 1996 Dec;6(6):493-4. doi: 10.1016/s0960-8966(96)00395-1.


The LGMD2C linked to chromosome 13q and related to a 35 KDa dystrophin-associated glycoprotein deficiency, is very similar to Duchenne muscular dystrophy with an autosomal recessive inheritance. It is characterized by a variability of the age of onset, the severity of the evolution and the severity of myopathic changes at the muscle biopsy. This variability was also present in the expression of the alpha-sarcoglycan between the same sibships and between different families.

MeSH terms

  • Age of Onset
  • Chromosomes, Human, Pair 13*
  • Extremities
  • Genes, Recessive*
  • Humans
  • Muscle, Skeletal / physiopathology*
  • Muscular Dystrophies / genetics*