New <scp><i>M</i></scp><i>T‐ND1</i> pathologic mutation for <scp>L</scp>eber hereditary optic neuropathy

Abstract

This mutation expands the spectrum of deleterious changes in mitochondrial DNA-encoded complex I polypeptides associated with this pathology and highlights the difficulties in assigning pathogenicity to new homoplasmic mutations that show incomplete penetrance in sporadic Leber hereditary optic neuropathy patients.