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

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.

journal_name

Clin Neurol Neurosurg

journal_title

Clinical neurology and neurosurgery

authors

Luigetti M,Modoni A,Renna R,Silvestri G,Ricci E,Montano N,Tasca G,Papacci M,Monforte M,Conte A,Pomponi MG,Sabatelli M

doi

10.1016/j.clineuro.2010.05.001

subject

Has Abstract

pub_date

2010-11-01 00:00:00

pages

794-7

issue

9

eissn

0303-8467

issn

1872-6968

pii

S0303-8467(10)00143-5

journal_volume

112

pub_type

杂志文章

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