학술논문
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
Document Type
article
Author
Lindsey Van Haute; Emily O’Connor; Héctor Díaz-Maldonado; Benjamin Munro; Kiran Polavarapu; Daniella H. Hock; Gautham Arunachal; Alkyoni Athanasiou-Fragkouli; Mainak Bardhan; Magalie Barth; Dominique Bonneau; Nicola Brunetti-Pierri; Gerarda Cappuccio; Nikeisha J. Caruana; Natalia Dominik; Himanshu Goel; Guy Helman; Henry Houlden; Guy Lenaers; Karine Mention; David Murphy; Bevinahalli Nandeesh; Catarina Olimpio; Christopher A. Powell; Veeramani Preethish-Kumar; Vincent Procaccio; Rocio Rius; Pedro Rebelo-Guiomar; Cas Simons; Seena Vengalil; Maha S. Zaki; Alban Ziegler; David R. Thorburn; David A. Stroud; Reza Maroofian; John Christodoulou; Claes Gustafsson; Atchayaram Nalini; Hanns Lochmüller; Michal Minczuk; Rita Horvath
Source
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
Subject
Language
English
ISSN
2041-1723
Abstract
Van Haute et al describe autosomal recessive TEFM variants that impair mitochondrial transcription elongation and reduce the levels of promoter distal mitochondrial RNA transcripts, leading to heterogeneous mitochondrial diseases with a treatable neuromuscular transmission defect.