Variants in MME are associated with autosomal‐recessive distal hereditary motor neuropathy

OBJECTIVE: To identify a new genetic cause in patients segregating distal hereditary motor neuropathy (dHMN) with an autosomal recessive pattern. METHODS: Whole‐exome sequencing was conducted in two siblings and was combined with segregation analysis. Additionally, 83 unrelated dHMN patients with un...

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Pubblicato in:Ann Clin Transl Neurol
Autori principali: Hong, Daojun, Fang, Pu, Yao, Sheng, Chen, Juanjuan, Zhang, Xiaolei, Chen, Shuyun, Zhang, Jingfen, Tan, Dandan, Wang, Li, Han, Xinsheng, Xin, Ling, Wang, Yan, Liu, Meige, Cong, Lu, Zhong, Shanshan, Ouyang, Hui, Gao, Xuguang, Zhang, Jun
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2019
Soggetti:
Research Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6764622/
https://ncbi.nlm.nih.gov/pubmed/31429185
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.50868
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