Article
Mitochondrial diabetes and mitochondrial DNA mutation load in MELAS syndrome.
European journal of endocrinology - 1 Nov 2020
Chae Hyun-Wook, Na Ji-Hoon, Kim Ho-Seong, Lee Young-Mock
Abstract excerpt
OBJECTIVE: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a very rare condition; it encompasses a diverse group of disorders including diabetes. Phenotypic variability can be attributed to heteroplasmy along with varying proportions of mutant and WT mitochondrial DNA (mtDNA). To examine the clinical relationship between mitochondrial diabetes and mutational...
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