SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion

SLC25A42 is the main transporter of coenzyme A (CoA) into mitochondria. To date, 15 individuals have been reported to have one of two bi‐allelic homozygous missense variants in the SLC25A42 as the cause of mitochondrial encephalomyopathy, of which 14 of them were of Saudi origin and share the same f...

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Detalles Bibliográficos
Autores principales: Aldosary, Mazhor, Baselm, Shahad, Abdulrahim, Maha, Almass, Rawan, Alsagob, Maysoon, AlMasseri, Zainab, Huma, Rozeena, AlQuait, Laila, Al‐Shidi, Tarfa, Al‐Obeid, Eman, AlBakheet, Albandary, Alahideb, Basma, Alahaidib, Lujane, Qari, Alya, Taylor, Robert W., Colak, Dilek, AlSayed, Moeenaldeen D., Kaya, Namik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8260478/
https://www.ncbi.nlm.nih.gov/pubmed/34258143
http://dx.doi.org/10.1002/jmd2.12218

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