Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in
TK2
mtDNA depletion syndrome
Journal
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
ISSN: 2532-1900
Titre abrégé: Acta Myol
Pays: Italy
ID NLM: 9811169
Informations de publication
Date de publication:
Jun 2020
Jun 2020
Historique:
received:
19
11
2019
accepted:
26
05
2020
entrez:
9
9
2020
pubmed:
10
9
2020
medline:
23
7
2021
Statut:
epublish
Résumé
The mitochondrial DNA depletion syndrome (MDDS) is characterized by extensive phenotypic variability and is due to nuclear gene mutations resulting in reduced mtDNA copy number. Thymidine kinase 2 (TK2) mutations are well known to be associated with MDDS. Few severely affected cases carrying the c.416C > T mutation in
Identifiants
pubmed: 32904881
doi: 10.36185/2532-1900-012
pmc: PMC7460728
doi:
Substances chimiques
thymidine kinase 2
EC 2.7.1.-
Thymidine Kinase
EC 2.7.1.21
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
94-97Informations de copyright
©2020 Gaetano Conte Academy - Mediterranean Society of Myology, Naples, Italy.
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