Channelopathies and Related Disorders

Abstract

Neuromuscular Disorders 31 (2021) S47-S162 confirmed by whole mitochondria DNA sequencing. We found m.9176T > C mutation of 100 % homoplasmy, which was reported previously with LS. To our knowledge, there has been no report of cortical involvement in late-onset LS patients with m.9176T > C mutation. Therefore, our case suggests that m.9176T > C mutation of MTATP6 can be the cause of LS/MELAS overlap syndrome.