Article

Limb-girdle muscular dystrophy 2C: clinical aspects.

Institut National de Neurologie, Tunis, Tunisia.
Neuromuscular Disorders (impact factor: 2.8). 01/1997; 6(6):493-4. DOI:10.1016/S0960-8966(96)00395-1
Source: PubMed

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

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    K L Lin, H S Wang, S T Chen, L S Ro
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Keywords

35 KDa dystrophin-associated glycoprotein deficiency
 
alpha-sarcoglycan
 
autosomal recessive inheritance
 
chromosome 13q
 
Duchenne muscular dystrophy
 
muscle biopsy
 
myopathic changes