A novel mutation in the mitochondrial MT-ND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues-Reference-Cited by-同舟云学术

A novel mutation in the mitochondrial MT-ND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues

Published:2020-01 Issue: Volume:50 Page:14-18
ISSN:1567-7249
Container-title:Mitochondrion
language:en
Short-container-title:Mitochondrion

Author:

Panadés-de Oliveira Luísa,Montoya Julio,Emperador Sonia,Ruiz-Pesini Eduardo,Jericó Ivonne,Arenas Joaquín,Hernández-Lain Aurelio,Blázquez Alberto,Martín Miguel Á.,Domínguez-González Cristina

Funder

Instituto de Salud Carlos III

Departamento de Ciencia, Tecnología y Universidad del Gobierno de Aragón

FEDER

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Molecular Medicine

Reference17 articles.

1. Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders;Bannwarth;J. Med. Genet.,2013

2. Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease;Blok;J. Med. Genet.,2007

3. A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome;Crimi;Neurology,2003

4. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease;Kirby;Ann. Neurol.,2003

5. Subacute necrotizing encephalomyelopathy in an infant;Leigh;J. Neurol. Neurosurg. Psychiatry,1951

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