Severe clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature death

Severe clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature death

Abstract The spectrum of disease associated with pathogenic mitochondrial DNA (mtDNA) variants is wide. Most often, heteroplasmic mitochondrial DNA disease is the result of an adenine to guanine transition at position 3243 of mtDNA (m.3243A > G) in the MT-TL1 gene encoding tRNALeu(UUR). Here, we...

Full description

Saved in:
Bibliographic Details
Main Authors: Hannah Gillespie, Yi Shiau Ng, Katrina M. Wood, Sila Hopton, Charlotte L. Alston, Emma L. Blakely, Nick Thompson, Robert W. Taylor, Andrew C. Browning, Robert McFarland, John A. Sayer
Format: Article
Language:English
Published: Springer 2025-08-01
Series:Journal of Rare Diseases
Subjects:
Mitochondrial disorders
Nephrotic syndrome
MELAS
mtDNA
Membranoproliferative glomerulonephritis
Online Access:https://doi.org/10.1007/s44162-025-00110-0
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://doi.org/10.1007/s44162-025-00110-0

Similar Items