Late-onset Leigh syndrome without delayed development in China: A case report

Figure 1 Sequence electropherograms showing the m. 9176T>C substitution disclosed in the patient’s and his parents’ blood samples. Restriction fragment length polymorphism (RFLP) analysis of the m.9176T>C mutation. A: The mutational load assessment by polymerase chain reaction-RFLP analysis confirmed that the patient harbored the mutation in blood leukocytes. Moreover, the variant was nearly homoplasmic (> 99%) in the tissues examined; B: The mutation was also found in maternal blood at a low level of heteroplasmy; C: The mutation was not found in DNA samples derived from the patient’s father.