Advances in the molecular genetics of the limb-girdle type of autosomal recessive progressive muscular dystrophy
Advances in the molecular genetics of the limb-girdle type of autosomal recessive progressive muscular dystrophy
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DOI：
10.1097/00019052-199610000-00013
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发表时间：
1996-10-01
影响因子：
4.8
通讯作者：
Bushby, KMD
中科院分区：
文献类型：
--
作者：
Beckmann, JS;Bushby, KMD
A reclassification of the limb-girdle types of autosomal recessive muscular dystrophy based on genetic and protein information has been made possible by major advances over the past 2 years. At least six different forms of limb-girdle types of autosomal recessive muscular dystrophy can be defined by their genetic basis, with at least two pathogenic mechanisms involved. Three forms are defined by involvement of different proteins of the sarcoglycan complex, while a muscle specific protease (calpain 3) is implicated in another form of the recessive disease. These findings provide the basis for a new diagnostic approach to the group, with molecular techniques now an essential part of the diagnostic process, A scheme for diagnosis in this group is proposed.
