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Severe demyelinating hypertrophic polyneuropathy caused by a de novo frameshift mutation within the intracellular domain of myelin protein zero (MPZ/P0).

Abstract：

:Hereditary motor and sensory neuropathy (HMSN), also known as 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 with an underlying duplication in the gene coding for the peripheral myelin protein 22 (PMP22). Less frequently, mutations in the myelin protein zero gene (MPZ/P(0)) account for demyelinating CMT1B, Dejerine-Sottas syndrome (DSS), or congenital hypomyelinating neuropathy (CHN). Here, we report a patient with a severe, early-onset hypertrophic and dysmyelinating neuropathy. The patient exhibits a novel frameshift mutation with an insertion of a single T-nucleotide on position c.618_619 of the MPZ gene resulting in a premature stop M207fsX38.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Zschüntzsch J,Dibaj P,Pilgram S,Kötting J,Gerding WM,Neusch C

doi

10.1016/j.jns.2009.03.008

subject

Has Abstract

pub_date

2009-06-15 00:00:00

pages

113-5

issue

1-2

eissn

0022-510X

issn

1878-5883

pii

S0022-510X(09)00492-4

journal_volume

281

pub_type

杂志文章

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