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A case of CMT 1B due to Val 102/fs null mutation of theMPZgene presenting as hyperCKemia

Authors
Journal
Clinical Neurology and Neurosurgery
0303-8467
Publisher
Elsevier
Publication Date
Volume
112
Issue
9
Identifiers
DOI: 10.1016/j.clineuro.2010.05.001
Keywords
  • Hyperckemia
  • Inherited Neuropathy
  • Mpz
  • Sural Nerve Biopsy
  • Electromyography
Disciplines
  • Biology
  • Medicine

Abstract

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.

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