Autonomic instability, arrhythmia and visual impairment in a new presentation of
Leigh syndrome
MTFMT
autonomic instability
optic atrophy
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Mar 2023
Mar 2023
Historique:
received:
22
09
2022
revised:
10
11
2022
accepted:
28
11
2022
entrez:
6
3
2023
pubmed:
7
3
2023
medline:
7
3
2023
Statut:
epublish
Résumé
Mitochondrial methionyl-tRNA formyltransferase (MTFMT) is required for the initiation of translation in mitochondria. Pathogenic variants in
Identifiants
pubmed: 36873085
doi: 10.1002/jmd2.12355
pii: JMD212355
pmc: PMC9981406
doi:
Types de publication
Case Reports
Langues
eng
Pagination
150-155Informations de copyright
© 2022 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
The authors declare no conflicts of interest.
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