Article
The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients.
Orphanet journal of rare diseases - 14 Aug 2018
Wang Liang, Zhang Victor Wei, Li Shaoyuan, Li Huan, Sun Yiming, Li Jing, Zhu Yuling, He Ruojie, Lin Jinfu, Zhang Cheng
Abstract excerpt
BACKGROUND: Limb-girdle muscular dystrophy (LGMD) is a commonly diagnosed hereditary muscular disorder, characterized by the progressive weakness of the limb-girdle muscles. Although the condition has been well-characterized, clinical and genetic heterogeneity can be observed in patients with LGMD. Here, we aimed to describe the clinical manifestations and genetic variability among a cohort of patients with LGMD...
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