A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy

Mutations in the DNAJB6 gene have been identified as rare causes of myofibrillar myopathies. However, the underlying pathophysiologica mechanisms remain elusive. DNAJB6 has two known isoforms, including the nuclear isoform DNAJB6a and the cytoplasmic isoform DNAJB6b, which was thought to be the path...

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Detalles Bibliográficos
Autores principales: Qian, Fang-Yuan, Guo, Yu-Dong, Zu, Juan, Zhang, Jin-Hua, Zheng, Yi-Ming, Abdoulaye, Idriss Ali, Pan, Zhao-Hui, Xie, Chun-Ming, Gao, Han-Chao, Zhang, Zhi-Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7869515/
https://www.ncbi.nlm.nih.gov/pubmed/33557929
http://dx.doi.org/10.1186/s40478-020-01046-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7869515/
https://www.ncbi.nlm.nih.gov/pubmed/33557929
http://dx.doi.org/10.1186/s40478-020-01046-w

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