Mitochondrial A3243G mutation causes mitochondrial encephalomyopathy in a Chinese patient
Sign Up to like & getrecommendations! Published in 2019 at "Medicine"
DOI: 10.1097/md.0000000000015534
Abstract: Rationale: Mitochondrial mutations are associated with a wide spectrum of clinical abnormalities. More than half of these mutations are distributed in the 22 mitochondrial tRNA genes, including tRNALeu(UUR). In particular, the A3243G mutation in the… read more here.
Keywords: patient; a3243g mutation; mitochondrial encephalomyopathy; causes mitochondrial ... See more keywords
Mitochondrial Diabetes: The Clinical Spectrum of MIDD and MELAS in Association With the A3243G Mutation
Sign Up to like & getrecommendations! Published in 2021 at "Journal of the Endocrine Society"
DOI: 10.1210/jendso/bvab048.799
Abstract: Introduction: Maternally inherited diabetes and deafness (MIDD) is a multisystem disorder characterized by insulinopenia and sensorineural hearing loss. This rare form of monogenic diabetes is most commonly associated with the A3243G mutation of mitochondrial DNA… read more here.
Keywords: midd melas; patient; a3243g mutation; midd ... See more keywords