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Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients

Abstract Background Limb-girdle muscular dystrophies (LGMDs) are a group of heterogeneous inherited diseases predominantly characterized by limb-girdle muscle weakness and dystrophic changes on histological analysis. The frequency of LGMD subtypes varies among regions in China and ethnic populations...

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Main Authors: Feng Lin, Kang Yang, Xin Lin, Ming Jin, Long Chen, Fu-ze Zheng, Liang-liang Qiu, Zhi-xian Ye, Hai-zhu Chen, Min-ting Lin, Ning Wang, Zhi-qiang Wang
Format: Artigo
Language:Inglês
Published: BMC 2023-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Muscular dystrophies
Clinical manifestations
Mutation
Respiratory insufficiency
Cardiac abnormalities
Online Access:https://doi.org/10.1186/s13023-023-02897-x
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