Article
The weight of genotype on the clinical presentation of COQ7-related hereditary motor axonal neuropathy: a case series and literature review.
Arquivos de neuro-psiquiatria - 1 Apr 2026
Montouro Laura Alonso Matheus, Dias Amanda Selvátici Santos, Morita Maria da Penha Ananias, Coelho Érica Nogueira, Kouyoumdjian João Aris, Graca Carla Renata, Oliveira Fábio de Nazaré, Sampaio Pedro Henrique Marte Arruda, Lourenço Charles Marques, Estephan Eduardo de Paula
Abstract excerpt
Background: Pathogenic variants of the COQ7 gene result in a spectrum of neurological diseases, mainly distal hereditary motor neuropathy (dHMN). We herein report cases of dHMN related to biallelic p.Met1? (c.3G > T [NM_016138]). We compare phenotypes among different COQ7variants reported in the literature. Objective: To describe and analyze our case series, review COQ7-related diseases, and compare our case...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.