Pathogenicity of the variant m.13376  T  >  C in ND5 remains unproven

With interest we read the article by Sasaki et al. about a 14  years old Japanese female with mitochondrial encephalopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome being attributed to the variant m.13376 T > C in ND5 [1]. The variant had been transmitted via the maternal line as the mother carried the same variant with high heteroplasmy rate but manifested differentially with only short stature and headache [1] The study has a number of shortcomings.
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tags: Letter to the Editor Source Type: research