A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy
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ID: 272893
2021
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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 ...
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| Reference Key |
zhang2021actaa
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| 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;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; |
| Journal | acta neuropathologica communications |
| Year | 2021 |
| DOI |
10.1186/s40478-020-01046-w
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| URL | |
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