Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal–Distal Myopathy in a Chinese Patient

DNAJB6 was identified as the causative gene of limb-girdle muscular dystrophy type 1D. In recent years, the phenotypic and molecular spectrum of DNAJB6-myopathy has been expanded, and several mutations of DNAJB6 have been identified in Europe, North America, and Asia. Interestingly, almost all ident...

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Detalles Bibliográficos
Autores principales: Ji, Guang, Wang, Ning, Han, Xu, Wang, Yaye, Zhang, Jinru, Wu, Yue, Wu, Hongran, Ma, Shaojuan, Song, Xueqin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259785/
https://www.ncbi.nlm.nih.gov/pubmed/35812750
http://dx.doi.org/10.3389/fgene.2022.925926

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259785/
https://www.ncbi.nlm.nih.gov/pubmed/35812750
http://dx.doi.org/10.3389/fgene.2022.925926

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