Limb-girdle muscular dystrophy 2C: Clinical aspects

被引:30
作者
BenHamida, M
BenHamida, C
Zouari, M
Belal, S
Hentati, F
机构
关键词
limb-girdle muscular dystrophy; chromosome; 13; gamma-sarcoglycan deficiency; alpha-sarcoglycan variability;
D O I
10.1016/S0960-8966(96)00395-1
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
引用
收藏
页码:493 / 494
页数:2
相关论文
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