Загрузка...

Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency

Mitochondrial complex I deficiency is associated with a diverse range of clinical phenotypes and can arise due to either mitochondrial DNA (mtDNA) or nuclear gene defects. We investigated two adult patients who exhibited non-syndromic neurological features and evidence of isolated mitochondrial comp...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :Front Genet
Главные авторы: Ng, Yi Shiau, Thompson, Kyle, Loher, Daniela, Hopton, Sila, Falkous, Gavin, Hardy, Steven A., Schaefer, Andrew M., Shaunak, Sandip, Roberts, Mark E., Lilleker, James B., Taylor, Robert W.
Формат: Artigo
Язык:Inglês
Опубликовано: Frontiers Media S.A. 2020
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7052259/
https://ncbi.nlm.nih.gov/pubmed/32158465
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00024
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!