Journal
NPJ GENOMIC MEDICINE
Volume 4, Issue -, Pages -Publisher
SPRINGER NATURE, CO-PUBL CTR EXCELLENCE GENOMIC MED RES
DOI: 10.1038/s41525-019-0091-x
Keywords
-
Categories
Funding
- Ministry of Science and Technology, R.O.C. [MOST 106-3114-B-002-009]
- Society for Relief of Disabled Children
- Common Fund of the Office of the Director of the National Institutes of Health
- NCI
- NHGRI
- NHLBI
- NIDA
- NIMH
- NINDS
- Joshua Hellmann Foundation for Orphan Disease
Ask authors/readers for more resources
Primary coenzyme Q10 deficiency-7 (COQ10D7) is a rare mitochondrial disease caused by biallelic mutations in COQ4. Here we report the largest cohort of COQ10D7 to date, with 11 southern Chinese patients confirmed with biallelic COQ4 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 COQ4 (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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available