Abstract
Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically heterogeneous neuropathies classically divided into demyelinating (CMT1) and axonal forms (CMT2). The most common demyelinating form is CMT1A, due to a duplication in the gene encoding the peripheral myelin protein 22 (PMP22). Less frequently, mutations in the myelin protein zero gene (MPZ/P0) account for demyelinating CMT1B. Herein, we report a patient presenting with an isolated hyperCKemia in whom electrophysiological and pathological findings revealed a demyelinating and axonal neuropathy. Sequencing of the MPZ gene revealed a 306delA at codon 102 in the proband and in two relatives. This mutation has been already described in association with paucisymptomatic CMT without hyperCKemia.
Lingua originale | English |
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pagine (da-a) | 794-797 |
Numero di pagine | 4 |
Rivista | Clinical Neurology and Neurosurgery |
Volume | 112 |
DOI | |
Stato di pubblicazione | Pubblicato - 2010 |
Keywords
- Action Potentials
- Adult
- Axons
- Biopsy
- Charcot-Marie-Tooth Disease
- Codon
- Creatine Kinase
- Diagnosis
- Electromyography
- Family
- Genetic Testing
- Humans
- Male
- Motor Neurons
- Mutation
- Myelin P0 Protein
- Neural Conduction
- Neurologic Examination
- Peripheral Nerves
- Sensory Receptor Cells