Mitochondrial DNA disorders in neuromuscular diseases in diverse populations.
Journal
Annals of clinical and translational neurology
ISSN: 2328-9503
Titre abrégé: Ann Clin Transl Neurol
Pays: United States
ID NLM: 101623278
Informations de publication
Date de publication:
02 Aug 2024
02 Aug 2024
Historique:
revised:
21
06
2024
received:
22
05
2024
accepted:
24
06
2024
medline:
3
8
2024
pubmed:
3
8
2024
entrez:
2
8
2024
Statut:
aheadofprint
Résumé
Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole-exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite diagnoses, two possible diagnoses and eight secondary findings. Surprisingly, common pathogenic mtDNA variants found in people of European ancestry were very rare. Whole-exome or -genome sequencing from undiagnosed patients with neuromuscular symptoms should be re-analysed for mtDNA variants, but the landscape of pathogenic mtDNA variants differs around the world.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : UK Research and Innovation MRC
ID : MR/S005021/1
Organisme : UK Research and Innovation MRC
ID : MR/V009346/1
Organisme : National Institute for Health Research
Organisme : Wellcome Trust
ID : G118015
Pays : United Kingdom
Organisme : Addenbrooke's Charitable Trust, Cambridge University Trust
ID : G100142
Organisme : Evelyn Trust
Organisme : Stoneygate Trust
Organisme : Lily Foundation
Organisme : NIHR Cambridge Biomedical Research Centre
ID : BRC-1215-20014
Informations de copyright
© 2024 The Author(s). Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.
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