Clinical Heterogeneity in
ATP-synthase
MT-ATP6
NC_012920.1(MT-ATP6):m.9035T>C
complex V deficiency
genotype-phenotype correlation
mitochondrial disorder
p.L170P
Journal
Cells
ISSN: 2073-4409
Titre abrégé: Cells
Pays: Switzerland
ID NLM: 101600052
Informations de publication
Date de publication:
30 01 2022
30 01 2022
Historique:
received:
09
11
2021
revised:
22
01
2022
accepted:
26
01
2022
entrez:
15
2
2022
pubmed:
16
2
2022
medline:
9
4
2022
Statut:
epublish
Résumé
Human mitochondrial disease exhibits large variation of clinical phenotypes, even in patients with the same causative gene defect. We illustrate this heterogeneity by confronting clinical and biochemical data of two patients with the uncommon pathogenic homoplasmic NC_012920.1(MT-ATP6):m.9035T>C variant in
Identifiants
pubmed: 35159298
pii: cells11030489
doi: 10.3390/cells11030489
pmc: PMC8834419
pii:
doi:
Substances chimiques
MT-ATP6 protein, human
0
Mitochondrial Proton-Translocating ATPases
EC 3.6.3.-
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Références
Ann Neurol. 2019 Aug;86(2):310-315
pubmed: 31187502
Mol Genet Metab. 2017 Dec;122(4):172-181
pubmed: 29126765
Eur J Hum Genet. 2008 Oct;16(10):1265-74
pubmed: 18398437
J Cell Biol. 1967 Feb;32(2):415-38
pubmed: 10976232
Mitochondrion. 2007 Feb-Apr;7(1-2):45-52
pubmed: 17276740
Methods Enzymol. 1978;53:21-7
pubmed: 713835
Biochem J. 2004 Nov 1;383(Pt. 3):561-71
pubmed: 15265003
Pediatr Res. 2001 Nov;50(5):658-65
pubmed: 11641463
Annu Rev Pathol. 2010;5:297-348
pubmed: 20078222
Pediatr Res. 2012 Sep;72(3):232-40
pubmed: 22728747
Am J Hum Genet. 1990 Mar;46(3):428-33
pubmed: 2137962
Biochem Biophys Res Commun. 2011 Jul 29;411(2):247-52
pubmed: 21723259
Biochim Biophys Acta. 2010 Jun-Jul;1797(6-7):1004-11
pubmed: 20188060
J Inherit Metab Dis. 2012 Mar;35(2):211-25
pubmed: 21874297
EMBO Mol Med. 2018 Jun;10(6):
pubmed: 29735722
Methods Cell Biol. 2007;80:93-119
pubmed: 17445690
Ann Neurol. 1987 Oct;22(4):498-506
pubmed: 2829705
Nature. 1981 Apr 9;290(5806):457-65
pubmed: 7219534
Muscle Nerve. 2009 Sep;40(3):381-94
pubmed: 19626676
Biochim Biophys Acta Mol Basis Dis. 2020 Jun 1;1866(6):165726
pubmed: 32061767
Anal Biochem. 1991 Dec;199(2):223-31
pubmed: 1812789
Eur J Pediatr. 1986 Feb;144(5):441-4
pubmed: 3956532
J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S55-62
pubmed: 20082143
Biochim Biophys Acta. 2008 Jul-Aug;1777(7-8):592-8
pubmed: 18485888
Mitochondrion. 2020 Nov;55:64-77
pubmed: 32858252
Clin Chem. 2007 Apr;53(4):729-34
pubmed: 17332151
PLoS One. 2019 Aug 28;14(8):e0221886
pubmed: 31461494
Hum Mol Genet. 2010 Jan 15;19(2):374-86
pubmed: 19875463
Biochimie. 2014 May;100:171-6
pubmed: 23973280
Front Physiol. 2018 Apr 04;9:329
pubmed: 29670542
Clin Chim Acta. 1994 Jul;228(1):35-51
pubmed: 7955428
Hum Mutat. 2019 May;40(5):499-515
pubmed: 30763462
Clin Genet. 2020 Apr;97(4):556-566
pubmed: 31957011
J Inherit Metab Dis. 2011 Jun;34(3):741-7
pubmed: 21484424
J Neurol. 2021 Dec;268(12):4866-4873
pubmed: 34037856
Neurol Genet. 2020 Jan 13;6(1):e393
pubmed: 32042921
J Neurol Neurosurg Psychiatry. 2012 Sep;83(9):883-6
pubmed: 22577227
Hum Mutat. 2019 Dec;40(12):2430-2443
pubmed: 31379041
Pediatr Res. 1989 May;25(5):553-9
pubmed: 2541396
Pediatr Res. 2004 Jun;55(6):988-94
pubmed: 15155867
Electrophoresis. 2002 Aug;23(15):2525-33
pubmed: 12210211
Biochem J. 2007 Feb 15;402(1):175-86
pubmed: 17054425