A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes.

Basal Ganglia / metabolism Child DNA, Mitochondrial / genetics Female Humans Mitochondrial Myopathies / genetics Point Mutation RNA, Mitochondrial / genetics RNA, Transfer, Met / genetics Seizures / genetics
Basal ganglia changes MTTM Mitochondrial disease Myopathy Seizures mtDNA variant

Journal

Mitochondrion
ISSN: 1872-8278
Titre abrégé: Mitochondrion
Pays: Netherlands
ID NLM: 100968751

Informations de publication

Date de publication:
07 2019
Historique:
received: 26 03 2019
revised: 18 04 2019
accepted: 19 04 2019
pubmed: 26 4 2019
medline: 28 4 2020
entrez: 26 4 2019
Statut: ppublish

Résumé

Mitochondrial DNA variants in the MT-TM (mt-tRNA

Identifiants

DOI: 10.1016/j.mito.2019.04.007 PMID: 31022467 PMC: PMC6617384
pubmed: 31022467
pii: S1567-7249(19)30068-6
doi: 10.1016/j.mito.2019.04.007
pmc: PMC6617384
pii:
doi:

Substances chimiques

DNA, Mitochondrial 0
RNA, Mitochondrial 0
RNA, Transfer, Met 0

Types de publication

Case Reports Clinical Trial Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

18-23

Informations de copyright

Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Références

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Auteurs

Albert Z Lim (AZ)

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.

Emma L Blakely (EL)

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, UK.

Karen Baty (K)

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, UK.

Langping He (L)

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, UK.

Sila Hopton (S)

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, UK.

Gavin Falkous (G)

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, UK.

Kenneth McWilliam (K)

Department of Paediatric Neurology, Royal Hospital for Sick Children, Edinburgh EH9 1LF, UK.

Alison Cozens (A)

Inherited Metabolic Disorders Scotland, NHS National Services Scotland, Glasgow G2 6QE, UK.

Robert McFarland (R)

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.

Robert W Taylor (RW)

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, UK. Electronic address: robert.taylor@ncl.ac.uk.

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Classifications MeSH

questionsmedicales.fr › Système nerveux › Système nerveux central › Encéphale › Prosencéphale › Télencéphale › Cerveau › Noyaux gris centraux › A novel pathogenic m.4412G>A MT-TM...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › A novel pathogenic m.4412G>A MT-TM...
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › ADN › ADN mitochondrial › A novel pathogenic m.4412G>A MT-TM...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A novel pathogenic m.4412G>A MT-TM...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Maladies mitochondriales › Myopathies mitochondriales › A novel pathogenic m.4412G>A MT-TM...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation ponctuelle › A novel pathogenic m.4412G>A MT-TM...
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › ARN › ARN mitochondrial › A novel pathogenic m.4412G>A MT-TM...
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › ARN › ARN de transfert › ARN de transfert spécifiques des différents acides aminés › ARN de transfert de la méthionine › A novel pathogenic m.4412G>A MT-TM...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Crises épileptiques › A novel pathogenic m.4412G>A MT-TM...