Mitochondrial Diseases: A Diagnostic Revolution.
Trends Genet
; 36(9): 702-717, 2020 09.
Article
de En
| MEDLINE
| ID: mdl-32674947
ABSTRACT
Mitochondrial disorders have emerged as a common cause of inherited disease, but are traditionally viewed as being difficult to diagnose clinically, and even more difficult to comprehensively characterize at the molecular level. However, new sequencing approaches, particularly whole-genome sequencing (WGS), have dramatically changed the landscape. The combined analysis of nuclear and mitochondrial DNA (mtDNA) allows rapid diagnosis for the vast majority of patients, but new challenges have emerged. We review recent discoveries that will benefit patients and families, and highlight emerging questions that remain to be resolved.
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
ADN mitochondrial
/
Maladies mitochondriales
/
Génome mitochondrial
/
Séquençage du génome entier
/
Mutation
Type d'étude:
Diagnostic_studies
Limites:
Humans
Langue:
En
Journal:
Trends Genet
Sujet du journal:
GENETICA
Année:
2020
Type de document:
Article
Pays d'affiliation:
Royaume-Uni