The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants

The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants

Abstract Background Dysferlinopathy is an autosomal recessive muscular dystrophy caused by pathogenic variants in the dysferlin (DYSF) gene. This disease shows heterogeneous clinical phenotypes and genetic characteristics. Methods We reviewed the clinical and pathological data as well as the molecul...

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Bibliographic Details
Main Authors: Ning Wang, Xu Han, Shengpu Hao, Jingzhe Han, Xiaomeng Zhou, Shuyan Sun, Jin Tang, Yanpeng Lu, Hongran Wu, Shaojuan Ma, Xueqin Song, Guang Ji
Format: Article
Language:English
Published: BMC 2022-11-01
Series:BMC Neurology
Subjects:
Dysferlin
LGMD R2
Atypical asymptomatic hyperCKemia
Muscle pathology
Online Access:https://doi.org/10.1186/s12883-022-02905-w

Internet

https://doi.org/10.1186/s12883-022-02905-w

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