A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy

A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy

Abstract 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...

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Bibliographic Details
Main Authors: Fang-Yuan Qian, Yu-Dong Guo, Juan Zu, Jin-Hua Zhang, Yi-Ming Zheng, Idriss Ali Abdoulaye, Zhao-Hui Pan, Chun-Ming Xie, Han-Chao Gao, Zhi-Jun Zhang
Format: Article
Language:English
Published: BMC 2021-02-01
Series:Acta Neuropathologica Communications
Subjects:
DNAJB6a
Myofibrillar myopathy
Novel
Homozygous mutation
Human
Mice
Online Access:https://doi.org/10.1186/s40478-020-01046-w

Internet

https://doi.org/10.1186/s40478-020-01046-w

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