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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Acta Neuropathol Commun
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2021
Gaiak:
Research
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7869515/
https://ncbi.nlm.nih.gov/pubmed/33557929
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-020-01046-w
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak