Elsevier

Neuromuscular Disorders

Volume 6, Issue 6, December 1996, Pages 493-494
Neuromuscular Disorders

Symposium on recent advances in diagnosis and therapy of neuromuscular disease
Limb-girdle muscular dystrophy 2C: Clinical aspects

https://doi.org/10.1016/S0960-8966(96)00395-1Get rights and content

Abstract

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 α-sarcoglycan between the same sibships and between different families.

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