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Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome.

Abstract：

:Motor and sensory neuropathies with the clinical features of HMSN III (Dejerine-Sottas syndrome, DSS) are etiologically related to heterozygous mutations in either peripheral myelin protein-22 (PMP22) or myelin protein zero (MPZ). Heterozygous mutations in either of these two genes are also responsible for other hereditary peripheral neuropathies (HNPP, CMT1A, CMT1B or CH). In two families DSS was related to the homozygous presence of a MPZ mutation while heterozygosity showed a much milder phenotype. It has therefore been suggested that the clinical phenotype in peripheral neuropathies is related to the mutated gene, the type of mutation and confounding effects from other sources. In this study we describe a family with recessive DSS in which mutations were absent from the PMP22, MPZ, and connexin 32 (Cx32) genes. We conclude that DSS also exists as a distinct genetic entity with autosomal recessive inheritance as originally defined by Dejerine and Sottas in 1893.

journal_name

Neurosci Lett

journal_title

Neuroscience letters

authors

Stögbauer F,Young P,Wiebusch H,Timmerman V,Kuhlenbäumer G,Nelis E,Ringelstein EB,Kurlemann G,Assmann G,Van Broeckhoven C,Funke H

doi

10.1016/s0304-3940(97)00887-2

subject

Has Abstract

pub_date

1998-01-02 00:00:00

pages

1-4

issue

1

eissn

0304-3940

issn

1872-7972

pii

S0304-3940(97)00887-2

journal_volume

240

pub_type

杂志文章

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