Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy

Publication date: Available online 2 January 2021Source: MitochondrionAuthor(s): Zhimei Liu, Masaru Shimura, Li Zhang, Weihua Zhang, Jianing Wang, Minako Ogawa-Tominaga, Junling Wang, Xiaohui Wang, Junlan Lv, Wei Shi, Victor Wei Zhang, Kei Murayama, Fang Fang

Source: Mitochondrion - January 3, 2021 Category: Biochemistry Source Type: research