Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1.

Adult Codon, Terminator Electron Transport Complex IV / genetics Female Humans Leigh Disease / enzymology Optic Atrophies, Hereditary / enzymology

Cytochrome c oxidase Leigh syndrome MT-CO1

Journal

Mitochondrion

ISSN: 1872-8278

Titre abrégé: Mitochondrion

Pays: Netherlands

ID NLM: 100968751

Informations de publication

Date de publication:
07 2019

Historique:

received: 09 07 2018

revised: 02 11 2018

accepted: 07 02 2019

pubmed: 12 2 2019

medline: 28 4 2020

entrez: 12 2 2019

Statut: ppublish

Résumé

Adult-onset Leigh syndrome is a rare but important manifestation of mitochondrial disease. We report a 17 year old female who presented with subacute encephalopathy, brainstem and extrapyramidal signs, raised CSF lactate, and symmetrical hyperintensities in the basal ganglia on T2-weighted cerebral MRI. The presence of cytochrome c oxidase deficient fibres in muscle tissue prompted sequencing of the entire mitochondrial genome which revealed the novel stop codon mutation m.6579G>A; p.Gly226X in MT-CO1. Here we present the case and review the clinicopathological and molecular spectrum of previously reported MT-CO1 truncating mutations.

Identifiants

DOI: 10.1016/j.mito.2019.02.004 PMID: 30743023

pubmed: 30743023

pii: S1567-7249(18)30175-2

doi: 10.1016/j.mito.2019.02.004

pii:

doi:

Substances chimiques

Codon, Terminator 0

Electron Transport Complex IV EC 1.9.3.1

cytochrome c oxidase subunit I, human EC 1.9.3.1

Types de publication

Journal Article Research Support, Non-U.S. Gov't Review

Langues

eng