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.

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