Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy.

doi:10.1093/brain/awaa279

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Article

Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy.

Brain : a journal of neurology - 5 Dec 2020

Lin Chin-Hsien, Tsai Pei-I, Lin Han-Yi, Hattori Nobutaka, Funayama Manabu, Jeon Beomseok, Sato Kota, Abe Koji, Mukai Yohei, Takahashi Yuji, Li Yuanzhe, Nishioka Kenya, Yoshino Hiroyo, Daida Kensuke, Chen Meng-Ling, Cheng Jay, Huang Cheng-Yen, Tzeng Shiou-Ru, Wu Yen-Sheng, Lai Hsing-Jung, Tsai Hsin-Hsi, Yen Ruoh-Fang, Lee Ni-Chung, Lo Wen-Chun, Hung Yu-Chien, Chan Chih-Chiang, Ke Yi-Ci, Chao Chi-Chao, Hsieh Sung-Tsang, Farrer Matthew, Wu Ruey-Meei

Abstract excerpt

Parkinson's disease is a neurodegenerative disorder with a multifactorial aetiology. Nevertheless, the genetic predisposition in many families with multi-incidence disease remains unknown. This study aimed to identify novel genes that cause familial Parkinson's disease. Whole exome sequencing was performed in three affected members of the index family with a late-onset autosomal-dominant parkinsonism and...

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Identifiers

PMID: 33141179
DOI: 10.1093/brain/awaa279
PMCID: PMC7719032

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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