LIMB-GIRDLE MUSCULAR-DYSTROPHY 2C - CLINICAL ASPECTS

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