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Title:

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

Document type:
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Author(s):
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
Abstract:
Leigh syndrome is one of the most common neurological phenotypes observed in pediatric mitochondrial disease presentations. It is characterized by symmetrical lesions found on neuroimaging in the basal ganglia, thalamus, and brainstem and by a loss of motor skills and delayed developmental milestones. Genetic diagnosis of Leigh syndrome is complicated on account of the vast genetic heterogeneity with >75 candidate disease-associated genes having been reported to date. Candidate genes are still e...     »
Journal title abbreviation:
Am J Hum Genet
Year:
2020
Journal volume:
106
Journal issue:
1
Pages contribution:
92-101
Fulltext / DOI:
doi:10.1016/j.ajhg.2019.12.001
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/31866046
Print-ISSN:
0002-9297
TUM Institution:
Institut für Humangenetik
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