Functional analysis of a novel mutation in the TIMM8A gene that causes deafness ‐dystonia‐optic neuronopathy syndrome

ConclusionThis case expands the spectrum of mutations that cause DDON syndrome and demonstrates effects on mitochondrial morphology that are consistent with prior reports.

Source: Molecular Genetics & Genomic Medicine - January 4, 2020 Category: Genetics & Stem Cells Authors: Addison Neighbors, Tonya Moss, Lynda Holloway, Seok ‐Ho Yu, Fran Annese, Steve Skinner, Russell Saneto, Richard Steet Tags: ORIGINAL ARTICLE Source Type: research