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Article

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

American journal of human genetics - 2 Jan 2020

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 excerpt

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...

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PMID: 31883641
DOI: 10.1016/j.ajhg.2019.12.005
PMCID: PMC7042493

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