Article
Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.
Orphanet journal of rare diseases - 23 Jun 2020
Liang Wen-Chen, Jong Yuh-Jyh, Wang Chien-Hua, Wang Chen-Hua, Tian Xia, Chen Wan-Zi, Kan Tzu-Min, Minami Narihiro, Nishino Ichizo, Wong Lee-Jun C
Abstract excerpt
BACKGROUND: Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous, hereditary disease characterized by limb-girdle weakness and histologically dystrophic changes. The prevalence of each subtype of LGMD varies among different ethnic populations. This study for the first time analyzed the phenotypes and genotypes in Taiwanese patients with LGMD in a referral center for neuromuscular diseases (NMDs)....
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