Low Heteroplasmy Rates of the m.8993T>G Variant May Not Be Pathogenic
We read with interest the article by Lemoine et al1 about an 11-year-old boy with neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome due to the m.8993T>G variant in the MT-ATP6 gene who developed progressive renal involvement after age 12 years. We have a number of comments and concerns.