m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome.
elevated brain lactate level by MRS
focal T2 hyperintense basal ganglia lesion
generalized clonic seizures
generalized tonic seizures
hyperalaninemia
Journal
Cold Spring Harbor molecular case studies
ISSN: 2373-2873
Titre abrégé: Cold Spring Harb Mol Case Stud
Pays: United States
ID NLM: 101660017
Informations de publication
Date de publication:
02 2022
02 2022
Historique:
received:
30
07
2021
accepted:
07
01
2022
pubmed:
27
2
2022
medline:
13
4
2022
entrez:
26
2
2022
Statut:
epublish
Résumé
Variants in the mitochondrial genome can result in dysfunction of Complex I within the electron transport chain, thus causing disruptions in oxidative phosphorylation. Pathogenic variants in the
Identifiants
pubmed: 35217561
pii: mcs.a006136
doi: 10.1101/mcs.a006136
pmc: PMC8958915
pii:
doi:
Substances chimiques
DNA, Mitochondrial
0
Lactic Acid
33X04XA5AT
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2022 Jean et al.; Published by Cold Spring Harbor Laboratory Press.
Références
Mitochondrion. 2020 Mar;51:97-103
pubmed: 31972374
Hum Mutat. 2020 Dec;41(12):2028-2057
pubmed: 32906214
Ann Neurol. 1996 Mar;39(3):343-51
pubmed: 8602753
Curr Med Chem. 2009;16(10):1266-77
pubmed: 19355884
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Ann Neurol. 2016 Feb;79(2):190-203
pubmed: 26506407
J Med Genet. 2004 Oct;41(10):784-9
pubmed: 15466014
Biochim Biophys Acta. 2009 May;1787(5):491-501
pubmed: 18977334
Nature. 2014 Nov 6;515(7525):80-84
pubmed: 25209663
Curr Protoc Bioinformatics. 2013 Dec;44:1.23.1-26
pubmed: 25489354
Discov Med. 2012 Dec;14(79):389-99
pubmed: 23272691
Neurology. 2002 Nov 12;59(9):1406-11
pubmed: 12427892
Annu Rev Biochem. 2006;75:69-92
pubmed: 16756485
Nature. 2020 May;581(7809):434-443
pubmed: 32461654
J Hum Genet. 2014 Jul;59(7):405-7
pubmed: 24830958
Pediatr Radiol. 2016 Apr;46(4):443-51
pubmed: 26739140
PLoS Comput Biol. 2017 Jun 22;13(6):e1005628
pubmed: 28640805
J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):257-65
pubmed: 23772060