Neurological Disorders

ISSN: 2329-6895

Open Access

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


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.


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