A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family.

ABSTRACT:

Objective

The objective of this study was to identify the genetic cause for progressive peripheral nerve disease in a Venezuelan family. Despite the growing list of genes associated with Charcot-Marie-Tooth disease, many patients with axonal forms lack a genetic diagnosis.

Methods

A pedigree was constructed, based on family clinical data. Next-generation sequencing of mitochondrial DNA (mtDNA) was performed for 6 affected family members. Muscle biopsies from 4 family members were used for analysis of muscle histology and ultrastructure, mtDNA sequencing, and RNA quantification. Ultrastructural studies were performed on sensory nerve biopsies from 2 affected family members.

Results

Electrodiagnostic testing showed a motor and sensory axonal polyneuropathy. Pedigree ana

SUBMITTER: Fay A 

PROVIDER: S-EPMC7781299 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature