Novel compound heterozygous SUCLG1 variants may contribute to mitochondria DNA depletion syndrome‐9

Novel compound heterozygous SUCLG1 variants may contribute to mitochondria DNA depletion syndrome‐9

Abstract Background Succinate‐CoA ligase/synthetase (SCS) deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Variants in SUCLG1, the nuclear gene encoding the alpha subunit of the SCS enzyme playing a pivotal role in maintaining mtDNA in...

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Bibliographic Details
Main Authors: Yi‐ming Chen, Wei Chen, Yue Xu, Chao‐sheng Lu, Mian‐mian Zhu, Rong‐yue Sun, Yihong Wang, Yuan Chen, Jiaming Shi, Dan Wang
Format: Article
Language:English
Published: Wiley 2022-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
compound heterozygous variants
mitochondrial DNA depletion syndrome 9
mitochondrial encephlomyopathy
SUCLG1
whole exome sequencing
Online Access:https://doi.org/10.1002/mgg3.2010

Internet

https://doi.org/10.1002/mgg3.2010

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