Neurological Disorders

Intra- and inter-familial phenotypic heterogeneity of the m.7510T>C variant

Abstract

Josef Finsterer and Sinda Zarrouk-Mahjoub

In a recent article Kytövuori et al. reported a Finnish family with phenotypically variable multiorgan disease manifesting in the brain, ears, and endocrine organs, due to the variant m.7510T>C in the MT-TS1 (tRNA(Ser)) gene with high heteroplasmy. We have the following comments and concerns.