Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts

Biallelic pathogenic variants in UQCRFS1 underlie a rare form of isolated mitochondrial complex III deficiency associated with lactic acidosis and a distinctive scalp alopecia previously described in two unrelated probands. Here, we describe a participant in the Undiagnosed Diseases Network (UDN) wi...

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Main Authors: Elizabeth E. Blue, Samuel J. Huang, Alyna Khan, Katie Golden-Grant, Brenna Boyd, Elisabeth A. Rosenthal, Madelyn A. Gillentine, Leah R. Fleming, David R. Adams, Lynne Wolfe, Aimee Allworth, Michael J. Bamshad, Nikeisha J. Caruana, Sirisak Chanprasert, Jingheng Chen, Nitsuh Dargie, Daniel Doherty, Marisa W. Friederich, Fuki M. Hisama, Martha Horike-Pyne, Jessica C. Lee, Tonia E. Donovan, Daniella H. Hock, Kathleen A. Leppig, Danny E. Miller, Ghayda Mirzaa, Jane Ranchalis, Wendy H. Raskind, Cole R. Michel, Richard Reisdorph, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, David A. Stroud, Virginia P. Sybert, Mark H. Wener, Andrew B. Stergachis, Christina T. Lam, Gail P. Jarvik, Katrina M. Dipple, Johan L.K. Van Hove, Ian A. Glass
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Rare
Subjects:
UQCRFS1
GJA8
mitochondrial complex III
alopecia
cataracts
rare disease
Online Access:http://www.sciencedirect.com/science/article/pii/S2950008724000231
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