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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Библиографические подробности
Опубликовано в: :JIMD Rep
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley & Sons, Inc. 2021
Предметы:
Research Reports
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC8260478/
https://ncbi.nlm.nih.gov/pubmed/34258143
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12218
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