Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5.
Pin-Shiuan ChenNi-Chung LeeChieh-Ju SungYa-Wen LiuWen-Chin WengPi-Chuan FanWang-Tso LeeYin-Hsiu ChienChao-Szu WuYueh-Feng SungMing-Chen TsaiYi-Chung LeeHsueh-Wen HsuehSabrina Mai-Yi FanMeng-Chen WuHsun LiHuan-Yun ChenHan-I LinChih-Hsin Ou-YangWuh-Liang HwuhChin-Hsien LinPublished in: Movement disorders : official journal of the Movement Disorder Society (2023)
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.