Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency

Author:

Alston Charlotte L.,Veling Mike T.,Heidler Juliana,Taylor Lucie S.,Alaimo Joseph T.,Sung Andrew Y.,He Langping,Hopton Sila,Broomfield Alexander,Pavaine Julija,Diaz Jullianne,Leon Eyby,Wolf Philipp,McFarland Robert,Prokisch Holger,Wortmann Saskia B.,Bonnen Penelope E.,Wittig Ilka,Pagliarini David J.,Taylor Robert W.

Funder

Wellcome Centre for Mitochondrial Research

Medical Research Council (MRC) International Centre for Genomic Medicine in Neuromuscular Disease

Newcastle University Centre for Aging and Vitality

Biotechnology and Biological Sciences Research Council

Medical Research Council

National Institute of Health Research (NIHR) Biomedical Research Centre in Age and Age Related Diseases

Newcastle upon Tyne Hospitals National Health Service (NHS) Foundation

Medical Research Council (MRC) and Engineering and Physical Sciences Research Council (ESPRC) Newcastle Molecular Pathology Node

NHS Highly Specialised Service for Rare Mitochondrial Disorders

Lily Foundation

National Institutes of Health

National Institute for Health Research

NIHR

National Science Foundation

NSF

Bundesministerium für Bildung und Forschung (BMBF) mitoNET—German Network for Mitochondrial Disorders

BMBF

Horizon2020

German Network for Mitochondrial Disorders

NIH National Institute of Neurological Disorders and Stroke

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

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