Ontology highlight
ABSTRACT:
SUBMITTER: Iuso A
PROVIDER: S-EPMC6323019 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Iuso Arcangela A Alhaddad Bader B Weigel Corina C Kotzaeridou Urania U Mastantuono Elisa E Schwarzmayr Thomas T Graf Elisabeth E Terrile Caterina C Prokisch Holger H Strom Tim M TM Hoffmann Georg F GF Meitinger Thomas T Haack Tobias B TB
JIMD reports 20180620
SLC25A42 is an inner mitochondrial membrane protein which has been shown to transport coenzyme A through a lipid bilayer in vitro. A homozygous missense variant in this gene has been recently reported in 13 subjects of Arab descent presenting with mitochondriopathy with variable clinical manifestations. By exome sequencing, we identified two additional individuals carrying rare variants in this gene. One subject was found to carry the previously reported missense variant in homozygous state, whi ...[more]