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Titel:

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

Dokumenttyp:
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Autor(en):
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...     »
Zeitschriftentitel:
Am J Hum Genet
Jahr:
2020
Band / Volume:
106
Heft / Issue:
1
Seitenangaben Beitrag:
92-101
Volltext / DOI:
doi:10.1016/j.ajhg.2019.12.001
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/31866046
Print-ISSN:
0002-9297
TUM Einrichtung:
Institut für Humangenetik
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