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Titolo:
Mutation analysis in Charcot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity
Autore:
Young, P; Grote, K; Kuhlenbaumer, G; Debus, O; Kurlemann, H; Halfter, H; Funke, H; Ringelstein, EB; Stogbauer, E;
Indirizzi:
ETH Honggerberg, Dept Neurol, CH-8093 Zurich, Switzerland ETH HonggerbergZurich Switzerland CH-8093 , CH-8093 Zurich, Switzerland ETH Honggerberg, Inst Clin Chem & Lab Med, CH-8093 Zurich, Switzerland ETHHonggerberg Zurich Switzerland CH-8093 , CH-8093 Zurich, Switzerland ETH Honggerberg, Inst Therapy, CH-8093 Zurich, Switzerland ETH Honggerberg Zurich Switzerland CH-8093 , CH-8093 Zurich, Switzerland
Titolo Testata:
JOURNAL OF NEUROLOGY
fascicolo: 5, volume: 248, anno: 2001,
pagine: 410 - 415
SICI:
0340-5354(200105)248:5<410:MAICTD>2.0.ZU;2-N
Fonte:
ISI
Lingua:
ENG
Soggetto:
PROTEIN ZERO GENE; HEREDITARY NEUROPATHY; PRESSURE PALSIES; DEJERINE-SOTTAS; PMP22 GENE; LIABILITY; IDENTIFICATION; MOTOR;
Keywords:
CMT; mutation; MPZ; GJB1; electrophysiology;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
26
Recensione:
Indirizzi per estratti:
Indirizzo: Young, P ETH Honggerberg, Inst Cell Biol, CH-8093 Zurich, Switzerland ETH Honggerberg Zurich Switzerland CH-8093 Zurich, Switzerland
Citazione:
P. Young et al., "Mutation analysis in Charcot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity", J NEUROL, 248(5), 2001, pp. 410-415

Abstract

Charcot-Marie-Tooth disease type 1 (CMT1) is a demyelinating peripheral neuropathy most commonly caused by a DNA duplication on chromosome 17p11.2 including the peripheral myelin protein 22 (PMP22). Point mutations in the myelin protein zero gene (MPZ) and gap junction protein, beta-1 gene (GJB1) are also found in association with CMT1 or the subclass of CMT type X (CMTX), respectively. Recently point mutations in these genes have been found in patients showing the axonal variant of CMT, CMT type 2 (CMT2). We here describe the clinical and electro-physiological findings caused by two novel and two recently described MPZ mutations and six GJB1 mutations. Different MPZ and GJB1 mutations were associated with different grades of severity in CMT1 and CMTX. The novel MPZ Glu141(st) op mutation was associated with the axonal CMT2. We conclude that the clinical and electrophysiological heterogeneity among CMT patients carrying point mutations in MPZ and GJB1 is similar. Thus for clinical purposes CMT1 and CMT2 patients should be screened for mutations in these two genes after duplication on chromosome 17p11.2 has been excluded as the disease causing mutation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/01/21 alle ore 01:18:05