A Novel Unstable Mutation in Mitochondrial DNA Responsible for Maternally Inherited Diabetes and Deafness

OBJECTIVE: The m.3243A>G mutation in mitochondrial DNA (mtDNA) is responsible for maternally inherited diabetes and deafness (MIDD). Other mtDNA mutations are extremely rare. RESEARCH DESIGN AND METHODS: We studied a patient presenting with diabetes and deafness who does not carry the m.3243A>...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Bannwarth, Sylvie, Abbassi, Meriame, Valéro, René, Fragaki, Konstantina, Dubois, Noémie, Vialettes, Bernard, Paquis-Flucklinger, Véronique
Médium: Artigo
Jazyk:Inglês
Vydáno: American Diabetes Association 2011
Témata:
Original Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3220838/
https://ncbi.nlm.nih.gov/pubmed/21994425
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2337/dc11-1012
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky