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Yu, Mullin Ho-Chung; Tsang, Mandy Ho-Yin; Lai, Sophie; Ho, Matthew Sai-Pong; Tse, Donald M L; Willis, Brooke; Kwong, Anna Ka-Yee; Chou, Yen-Yin; Lin, Shuan-Pei; Quinzii, Catarina M; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Kuo, Pao-Lin; Chan, Victor Chi-Man; Tsoi, Cheung; Chong, Shuk-Ching; Rodenburg, Richard J T; Smeitink, Jan; Mak, Christopher Chun-Yu; Yeung, Kit-San; Fung, Jasmine Lee-Fong; Lam, Wendy; Hui, Joannie; Lee, Ni-Chung; Fung, Cheuk-Wing; Chung, Brian Hon-Yin
Npj genomic medicine, 08/2019, Letnik: 4, Številka: 1Journal Article
Primary coenzyme Q10 deficiency-7 (COQ10D7) is a rare mitochondrial disease caused by biallelic mutations in . Here we report the largest cohort of COQ10D7 to date, with 11 southern Chinese patients confirmed with biallelic mutations. Five of them have the classical neonatal-onset encephalo-cardiomyopathy, while the others have infantile onset with more heterogeneous clinical presentations. We also identify a founder mutation (NM_016035.5): c.370G>A, p.(Gly124Ser) for COQ10D7, suggesting a higher chance of occurrence in the southern Chinese. This study helps improve understanding of the clinical spectrum of this disorder.
