Article
Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency.
European journal of human genetics : EJHG - 1 Dec 2021
Guo Le, Engelen Bob P H, Hemel Irene M G M, de Coo Irenaeus F M, Vreeburg Maaike, Sallevelt Suzanne C E H, Hellebrekers Debby M E I, Jacobs Ed H, Sadeghi-Niaraki Farah, van Tienen Florence H J, Smeets Hubert J M, Gerards Mike
Abstract excerpt
In a Dutch non-consanguineous patient having mitochondrial encephalomyopathy with complex I and complex IV deficiency, whole exome sequencing revealed two compound heterozygous variants in SLIRP. SLIRP gene encodes a stem-loop RNA-binding protein that regulates mitochondrial RNA expression and oxidative phosphorylation (OXPHOS). A frameshift and a deep-intronic splicing variant reduced the amount of functional...
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