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Clin Neurol Neurosurg. 2010 Nov;112(9):794-7. doi: 10.1016/j.clineuro.2010.05.001. Epub 2010 May 26.

A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.

Author information

1
Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy. mluigetti@gmail.com

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.

PMID:
20537790
DOI:
10.1016/j.clineuro.2010.05.001
[Indexed for MEDLINE]

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