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

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 child,...

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Detalles Bibliográficos
Autores principales: Zhang, Gang, Xu, Min, Huang, Tingting, Lin, Wenxin, Chen, Jinglin, Chen, Wangyang, Chang, Xingzhi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8082920/
https://www.ncbi.nlm.nih.gov/pubmed/33926407
http://dx.doi.org/10.1186/s12887-021-02656-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8082920/
https://www.ncbi.nlm.nih.gov/pubmed/33926407
http://dx.doi.org/10.1186/s12887-021-02656-6

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