Related Experiment Video
Updated: Jun 12, 2026

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
Published on: January 7, 2019
Charcot-Marie-Tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene
Isabel Banchs1, Carlos Casasnovas, Jordi Montero
1Centre per el Diagnóstic Genètic i Molecular de Malaties Hereditaries, Intitut de Investigacions biomèdiques de Bellvitge (Idibell), Barcelona, Spain.
Abstract:
Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited sensory and motor neuropathies. Mutations in the gene that encodes for myelin protein zero (MPZ) can produce different phenotypes: CMT1 (with low conduction velocities), CMT2 (less frequent and with unaffected conduction velocities), and CMTID (with intermediate conduction velocities). We report a study of seven patients from a four-generation family. All the affected members of the family had a typical CMT phenotype, but three of them had calf hypertrophy. The nerve conduction velocities (NCV) in all of them were between 35 and 43 m/s. Molecular study revealed the novel mutation Lys214Met in the MPZ gene. Molecular study of the MPZ gene would be useful in cases of CMT in families with intermediate NCV, especially if no mutations in the GJB-1 gene are found or there is male-to-male transmission.
More Related Videos
03:45Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
06:35In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration
Published on: June 15, 2018
Related Concept Videos
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Animal Mitochondrial Genetics
Mitral Valve Prolapse I: Introduction
Huntington Disease l: Introduction
Myasthenia Gravis ll: Pathophysiology
Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...