Leigh syndrome caused by mutations in
Adolescent
Biopsy
Child
Child, Preschool
Cohort Studies
Female
Fibroblasts
/ metabolism
Genomic Structural Variation
/ genetics
Humans
Hydroxymethyl and Formyl Transferases
/ genetics
Infant
Infant, Newborn
Leigh Disease
/ genetics
Male
Mitochondria
/ genetics
Mitochondrial Diseases
/ genetics
Mitochondrial Proteins
Mutation
Prognosis
Retrospective Studies
Journal
Annals of clinical and translational neurology
ISSN: 2328-9503
Titre abrégé: Ann Clin Transl Neurol
Pays: United States
ID NLM: 101623278
Informations de publication
Date de publication:
03 2019
03 2019
Historique:
received:
09
11
2018
revised:
21
12
2018
accepted:
26
12
2018
entrez:
27
3
2019
pubmed:
27
3
2019
medline:
27
3
2019
Statut:
epublish
Résumé
Mitochondrial methionyl-tRNA formyltransferase (MTFMT) is required for the initiation of translation and elongation of mitochondrial protein synthesis Retrospective cohort study combining new cases and previously published cases. Thirty-eight patients with pathogenic variants in Patients that harbour pathogenic variants in
Identifiants
pubmed: 30911575
doi: 10.1002/acn3.725
pii: ACN3725
pmc: PMC6414492
doi:
Substances chimiques
Mitochondrial Proteins
0
Hydroxymethyl and Formyl Transferases
EC 2.1.2.-
methionyl-tRNA formyltransferase
EC 2.1.2.9
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Pagination
515-524Subventions
Organisme : Medical Research Council
ID : MR/K000608/1
Pays : United Kingdom
Organisme : Biotechnology and Biological Sciences Research Council
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0800674
Pays : United Kingdom
Organisme : Medical Research Council
ID : L016354
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : NINDS NIH HHS
ID : R01 NS083726
Pays : United States
Commentaires et corrections
Type : ErratumIn
Déclaration de conflit d'intérêts
None declared.
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