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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- Lin,Chih-Hsin Ou-Yang, Wuh-Liang Hwuh,Chin-Hsien Lin

Movement disorders（2023）

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Key words
mitochondria,mitochondrial complex I deficiency,NDUFAF5,striatal necrosis,Leigh syndrome,dystonia
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