Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review

Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review

Background: Leigh syndrome is a rare, genetic, and severe mitochondrial disorder characterized by neuromuscular issues (ataxia, seizure, hypotonia, developmental delay, dystonia) and ocular abnormalities (nystagmus, atrophy, strabismus, ptosis). It is caused by pathogenic variants in either mitochon...

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Bibliographic Details
Main Authors: Umamaheswaran Gurusamy, Swetha Ramadesikan, Mohammad Marhabaie, Caitlyn M. Colwell, Jesse M. Hunter, Marco L. Leung, Elaine R. Mardis, Peter White, Murugu Manickam, Richard K. Wilson, Daniel C. Koboldt
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-01-01
Series:Frontiers in Genetics
Subjects:
leigh syndrome
HtrA2
mitochondrial disease
trio-whole exome sequencing
compound heterozygous
MGCA8
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1298574/full

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https://www.frontiersin.org/articles/10.3389/fgene.2023.1298574/full

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