Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5.

Pin-Shiuan Chen,Ni-Chung Lee,Chieh-Ju Sung,Ya-Wen Liu,Wen-Chin Weng,Pi-Chuan Fan,Wang-Tso Lee,Yin-Hsiu Chien,Chao-Szu Wu,Yueh-Feng Sung,Ming-Chen Tsai,Yi-Chung Lee,Hsueh-Wen Hsueh, Sabrina Mai-Yi Fan,Meng-Chen Wu,Hsun Li,Huan-Yun Chen,Han-I Lin,Chih-Hsin Ou-Yang, Wuh-Liang Hwuh,Chin-Hsien Lin

Movement disorders : official journal of the Movement Disorder Society（2023）

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摘要

The p.Met279Arg variant is a common mutation in our population with phenotypic heterogeneity and divergent prognosis based on age at onset. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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mutations,phenotypic heterogeneity

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