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Characterization of a UQCRC1 variant in a patient with progressive weakness, pain and sleep issues reveals a functional mitochondrial defect restored by mitochondrial transplantation

Primary mitochondrial defects underlie the heterogeneity of many rare inherited disorders. Pathogenic variants that disrupt the function of the multi-subunit protein complexes of the mitochondrial respiratory chain contribute to a range of neurological phenotypes and other clinical manifestations. T...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Gerardo G. Piroli, Rebecca Myers, Lynda Holloway, Andrew Hayek, Ellen Linebaugh, Julie R. Jones, Cindy Skinner, Steven A. Skinner, Norma Frizzell, Richard Steet
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2026-03-01
Schriftenreihe:Molecular Genetics and Metabolism Reports
Schlagworte:
UQCRC1
UQCRC2
Mitochondria
Mitochondrial transplantation
Complex III
Respiration
Online-Zugang:http://www.sciencedirect.com/science/article/pii/S2214426926000145
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