Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review

Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review

Abstract Background Centronuclear myopathy (CNM), a subtype of congenital myopathy (CM), is a group of clinical and genetically heterogeneous muscle disorders. Since the discovery of the SPEG gene and disease-causing variants, only a few additional patients have been reported. Case presentation The...

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Bibliographic Details
Main Authors: Gang Zhang, Min Xu, Tingting Huang, Wenxin Lin, Jinglin Chen, Wangyang Chen, Xingzhi Chang
Format: Article
Language:English
Published: BMC 2021-04-01
Series:BMC Pediatrics
Subjects:
Centronuclear myopathy
SPEG gene
Clinical phenotype
Electron microscopy study
Histochemical staining
Online Access:https://doi.org/10.1186/s12887-021-02656-6

Internet

https://doi.org/10.1186/s12887-021-02656-6

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