Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families

Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families

Abstract Background Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle biopsy and motor retardation. In this stu...

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Main Authors: Bin Mao, Xiaoling Cai, Na Lin, Yulin Jiang, Na Hao, Yifang Dai, Danhua Guo, Deqin He, Huili Xue, Lingji Chen, Qianqian He, Min Zhang, Meihuan Chen, Hailong Huang, Liangpu Xu
Format: Article
Language:English
Published: BMC 2025-01-01
Series:BMC Musculoskeletal Disorders
Subjects:
Congenital muscular dystrophy
Congenital myopathy
Molecular analysis
Optical genome mapping
Prenatal diagnosis
Online Access:https://doi.org/10.1186/s12891-025-08289-5
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