Mitochondrial DNA Pathogenic Variant Prevalence in Primary Mitochondrial Disease Patients With African (L) Mitochondrial Genome Haplogroups

Mitochondrial DNA Pathogenic Variant Prevalence in Primary Mitochondrial Disease Patients With African (L) Mitochondrial Genome Haplogroups

ABSTRACT Primary mitochondrial diseases (PMD) are caused by pathogenic variants in over 350 genes, 37 of which are located in mitochondrial DNA (mtDNA). While more than 100 mtDNA variants have confirmed disease associations, there are few reports of mtDNA‐related PMD in patients with African heritag...

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Bibliographic Details
Main Authors: Surita Meldau, Elizabeth M. McCormick, Ibrahim George‐Sankoh, Gillian T. Riordan, Kashief Khan, Laura E. MacMullen, Shrinav Dawlat, Dee Blackhurst, Marni J. Falk, Joanna L. Elson
Format: Article
Language:English
Published: Wiley 2025-07-01
Series:JIMD Reports
Subjects:
African American
haplogroup context
haplogroup L
primary mitochondrial disease
South Africa
Online Access:https://doi.org/10.1002/jmd2.70036
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https://doi.org/10.1002/jmd2.70036

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