Primary coenzyme Q10 deficiency due to COQ8A gene mutations

ConclusionsWe identified a patient with COQ10D4 caused by novelCOQ8A mutations. Our findings widen the spectrum ofCOQ8A gene mutations and clinical manifestations.

Source: Molecular Genetics & Genomic Medicine - August 1, 2020 Category: Genetics & Stem Cells Authors: Linwei Zhang, Tetsuo Ashizawa, Dantao Peng Tags: ORIGINAL ARTICLE Source Type: research