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A5116722007Abstract Objectives Mitochondrial DNA (mtDNA) mutations account for up to 5% of hereditary hearing loss cases. Most commonly, the m.3243A>G mtDNA variant contributes rare monogenic MIDD (Maternally Inherited Diabetes and Deafness) or MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like episodes) syndromes. Different proportions mutated (heteroplasmy) among affected tissues result in variability clinical manifestation severity phenotype. The aim presented study was establish...
10.1101/2025.03.13.25321027
preprint
EN
medRxiv (Cold Spring Harbor Laboratory)
2025-03-17
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