@article{9df00dde68fa49f4b79a6bc21ec6f1a0,
title = "Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases",
abstract = "A rapidly expanding catalog of neurogenetic disorders has encouraged a diagnostic shift towards early clinical whole exome sequencing (WES). Adult primary mitochondrial diseases (PMDs) frequently exhibit neurological manifestations that overlap with other nervous system disorders. However, mitochondrial DNA (mtDNA) is not routinely analyzed in standard clinical WES bioinformatic pipelines. We reanalyzed 11,424 exomes, enriched with neurological diseases, for pathogenic mtDNA variants. Twenty-four different mtDNA mutations were detected in 64 exomes, 11 of which were considered disease causing based on the associated clinical phenotypes. These findings highlight the diagnostic uplifts gained by analyzing mtDNA from WES data in neurological diseases. ANN NEUROL 2021;89:1240–1247.",
author = "{the SYNaPS Study Group} and {Queen Square Genomics} and Poole, {Olivia V.} and Chiara Pizzamiglio and David Murphy and Micol Falabella and Macken, {William L.} and Enrico Bugiardini and Woodward, {Cathy E.} and Robyn Labrum and Stephanie Efthymiou and Vincenzo Salpietro and Viorica Chelban and Rauan Kaiyrzhanov and Reza Maroofian and Amato, {Anthony A.} and Allison Gregory and Hayflick, {Susan J.} and Hallgeir Jonvik and Nicholas Wood and Henry Houlden and Jana Vandrovcova and Hanna, {Michael G.} and Alan Pittman and Pitceathly, {Robert D.S.} and Issam Alkhawaja and Selina Banu and Maria Bonsignore and Marianthi Breza and {Di Rosa}, Gabriella and Morteza Heidari and Georgios Koutsis and {van den Maagdenberg}, {Arn M.J.M.} and Alfons Macaya and Alexander M{\"u}nchau and Carmela Scuderi and Nazira Zharkinbekova",
note = "Publisher Copyright: {\textcopyright} 2021 The Authors. Annals of Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.",
year = "2021",
month = jun,
doi = "10.1002/ana.26063",
language = "English (US)",
volume = "89",
pages = "1240--1247",
journal = "Annals of Neurology",
issn = "0364-5134",
publisher = "John Wiley and Sons Inc.",
number = "6",
}