Article
Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J.
Molecular neurobiology - 1 Oct 2016
Zheng Wen, Chen Han, Deng Xiong, Yuan Lamei, Yang Yan, Song Zhi, Yang Zhijian, Wu Yuan, Deng Hao
Abstract excerpt
Limb-girdle muscular dystrophies (LGMD) are a highly heterogeneous group of genetic myopathies characterized by progressive proximal pelvic and/or shoulder girdle muscle weakness, with the onset ages ranging from early childhood to late adulthood. The identification of these dystrophies through genetic testing will not only inform long-term prognosis but will also assist in directing care more efficiently,...
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