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Titel:

Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.

Dokumenttyp:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Gusic, Mirjana; Schottmann, Gudrun; Feichtinger, René G; Du, Chen; Scholz, Caroline; Wagner, Matias; Mayr, Johannes A; Lee, Chae-Young; Yépez, Vicente A; Lorenz, Norbert; Morales-Gonzalez, Susanne; Panneman, Daan M; Rötig, Agnès; Rodenburg, Richard J T; Wortmann, Saskia B; Prokisch, Holger; Schuelke, Markus
Abstract:
Isolated complex III (CIII) deficiencies are among the least frequently diagnosed mitochondrial disorders. Clinical symptoms range from isolated myopathy to severe multi-systemic disorders with early death and disability. To date, we know of pathogenic variants in genes encoding five out of 10 subunits and five out of 13 assembly factors of CIII. Here we describe rare bi-allelic variants in the gene of a catalytic subunit of CIII, UQCRFS1, which encodes the Rieske iron-sulfur protein, in two unr...     »
Zeitschriftentitel:
Am J Hum Genet
Jahr:
2020
Band / Volume:
106
Heft / Issue:
1
Seitenangaben Beitrag:
102-111
Volltext / DOI:
doi:10.1016/j.ajhg.2019.12.005
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/31883641
Print-ISSN:
0002-9297
TUM Einrichtung:
Institut für Humangenetik
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