Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy.

In this report, we present 12 additional individuals with the same founder mutation who presented with variable manifestations ranging from asymptomatic lactic acidosis to a severe phenotype characterized by developmental regression and epilepsy. Our report confirms the link between SLC25A42 and mitochondrial disease in humans, and suggests that pathogenic variants in SLC25A42 should be interpreted with the understanding that the associated phenotype may be highly variable.
PMID: 29327420 [PubMed - as supplied by publisher]

Source: Clinical Genetics - January 12, 2018 Category: Genetics & Stem Cells Authors: Almannai M, Alsamri A, Alqasmi A, Faqeih E, AlMutairi F, Alotaibi M, Samman MM, Eyaid W, Aljadhai YI, Shamseldin HE, Craigen W, Alkuraya FS Tags: Clin Genet Source Type: research