Article
Lecocytes mutation load declines with age in carriers of the m.3243A>G mutation: A 10-year Prospective Cohort.
Clinical genetics - 1 Apr 2018
Langdahl J H, Larsen M, Frost M, Andersen P H, Yderstraede K B, Vissing J, Dunø M, Thomassen M, Frederiksen A L
Abstract excerpt
Carriers of the mitochondrial mutation m.3243A>G presents highly variable phenotypes including mitochondrial encephalomyopathy, lactoacidosis and stroke-like episodes (MELAS). We conducted a follow-up study to evaluate changes in leucocyte heteroplasmy and the clinical phenotypes in m.3243A>G carriers. Leucocyte heteroplasmy was determined by next generation sequencing covered by 100 000X reads in 32 individuals...
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