Article
[Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease].
Neurologia (Barcelona, Spain) - 1 Apr 2012
Berciano J, Sevilla T, Casasnovas C, Sivera R, Vílchez J J, Infante J, Ramón C, Pelayo-Negro A L, Illa I
Abstract excerpt
INTRODUCTION: Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited neuropathy. In accordance with the inheritance pattern and degree of slowing of motor conduction velocity (MCV) of the median nerve, CMT encompasses five main forms: CMT1 (autosomal dominant [AD] or X-linked transmission and MCV < 38 m/s); CMT2 (AD or X-linked transmission and MCV > 38 m/s); CMT4 (autosomal recessive [AR] and...
Topics
- Charcot-Marie-Tooth Disease
- Genetic Markers
- Guidelines as Topic
- Humans
- Molecular Epidemiology
- Mutation