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.
Original language | English |
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Pages (from-to) | 794-797 |
Number of pages | 4 |
Journal | Clinical Neurology and Neurosurgery |
Volume | 112 |
Issue number | 9 |
DOIs | |
Publication status | Published - Nov 2010 |
Keywords
- Electromyography
- HyperCKemia
- Inherited neuropathy
- MPZ
- Sural nerve biopsy
ASJC Scopus subject areas
- Clinical Neurology
- Surgery