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Titolo:
ABSENCE OF MUTATIONS IN PERIPHERAL MYELIN PROTEIN-22, MYELIN PROTEIN ZERO, AND CONNEXIN-32 IN AUTOSOMAL RECESSIVE DEJERINE-SOTTAS-SYNDROME
Autore:
STOGBAUER F; YOUNG P; WIEBUSCH H; TIMMERMAN V; KUHLENBAUMER G; NELIS E; RINGELSTEIN EB; KURLEMANN G; ASSMANN G; VANBROECKHOVEN C; FUNKE H;
Indirizzi:
UNIV MUNSTER,NEUROL KLIN & POLIKLIN,ALBERT SCHWEITZER STR 33 D-48129 MUNSTER GERMANY UNIV MUNSTER,INST ARTERIOSKLEROSEFORSCH D-4400 MUNSTER GERMANY UNIV MUNSTER,INST KLIN CHEM & LAB MED D-4400 MUNSTER GERMANY UNIV MUNSTER,KLIN & POLKLIN KINDERHEILKUNDE D-4400 MUNSTER GERMANY UNIV INSTELLING ANTWERP,BORN BUNGE FDN,FLANDERS INTERUNIV INST BIOTECHNOL,NEUROGENET LAB ANTWERP BELGIUM
Titolo Testata:
Neuroscience letters
fascicolo: 1, volume: 240, anno: 1998,
pagine: 1 - 4
SICI:
0304-3940(1998)240:1<1:AOMIPM>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
MARIE-TOOTH DISEASE; SENSORY NEUROPATHY; HEREDITARY MOTOR; CONGENITAL HYPOMYELINATION; DEMYELINATING NEUROPATHY; POINT MUTATION; PMP22 GENE; SHEATHS; FAMILY;
Keywords:
DEJERINE-SOTTAS SYNDROME; MOLECULAR GENETICS; PERIPHERAL MYELIN PROTEIN-22; MYELIN PROTEIN ZERO; CONNEXIN 32;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
18
Recensione:
Indirizzi per estratti:
Citazione:
F. Stogbauer et al., "ABSENCE OF MUTATIONS IN PERIPHERAL MYELIN PROTEIN-22, MYELIN PROTEIN ZERO, AND CONNEXIN-32 IN AUTOSOMAL RECESSIVE DEJERINE-SOTTAS-SYNDROME", Neuroscience letters, 240(1), 1998, pp. 1-4

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, thetype 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. (C) 1998 Elsevier Science Ireland Ltd.

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Documento generato il 24/01/21 alle ore 18:12:50