PMC:2495064 / 9902-10558 JSONTXT

{"project":"2_test","denotations":[{"id":"18674747-12518276-2049173","span":{"begin":643,"end":645},"obj":"12518276"}],"text":"Twelve subjects harbored a heteroplasmic mtDNA mutation. The mean heteroplasmy level for the 15 positive cases was 43% when homoplasmic mutations were included and 29% when homoplasmic mutations were excluded. The percentage level of mutant mtDNA was evenly distributed above and below the mean (Figure 1). The three homoplasmic subjects, including two known siblings, harbored an LHON mutation. D-loop sequencing and mtDNA haplogroup analysis confirmed that other mutation-positive cases were not maternally related to each other or to known pedigrees from the same geographic region, which had a different mtDNA sequence at two or more sites19 (Table 3)."}