Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
THE DOMINANT CHLORIDE CHANNEL MUTANT G200R CAUSING FLUCTUATING MYOTONIA - CLINICAL FINDINGS, ELECTROPHYSIOLOGY, AND CHANNEL PATHOLOGY
Autore:
WAGNER S; DEYMEER F; KURZ LL; BENZ S; SCHLEITHOFF L; LEHMANNHORN F; SERDAROGLU P; OZDEMIR C; RUDEL R;
Indirizzi:
UNIV ULM,DEPT GEN PHYSIOL D-89069 ULM GERMANY UNIV ULM,DEPT GEN PHYSIOL D-89069 ULM GERMANY CAPA UNIV,DEPT NEUROL ISTANBUL TURKEY UNIV ULM,DEPT APPL PHYSIOL D-89069 ULM GERMANY
Titolo Testata:
Muscle & nerve
fascicolo: 9, volume: 21, anno: 1998,
pagine: 1122 - 1128
SICI:
0148-639X(1998)21:9<1122:TDCCMG>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
CONGENITA; MUTATIONS; DISEASE; LOCUS;
Keywords:
MUSCLE DISEASE; CHLORIDE; MYOTONIA CONGENITA; CLCN1 GENE; FLUCTUATIONS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
30
Recensione:
Indirizzi per estratti:
Citazione:
S. Wagner et al., "THE DOMINANT CHLORIDE CHANNEL MUTANT G200R CAUSING FLUCTUATING MYOTONIA - CLINICAL FINDINGS, ELECTROPHYSIOLOGY, AND CHANNEL PATHOLOGY", Muscle & nerve, 21(9), 1998, pp. 1122-1128

Abstract

Clinical, electrophysiological, and molecular findings are reported for a family with dominant myotonia congenita in which all affected members have experienced long-term fluctuations of the symptom of myotonia. In some patients myotonia is combined with myalgia. The myotonia-causing mutation in this family is in the gene encoding the muscular chloride channel, hCIC-1, predicting the amino acid exchange G200R. We have constructed recombinant DNA vectors for expression of the mutant protein in tsA201 cells and investigation of the properties of the mutant channel. The most prominent alteration was a +100-mV shift of the midpoint of the activation curve, Therefore, within the physiological range the open probability of the mutant channel is markedly smaller than in wild-type. This shift is likely to be responsible for the myotonia in the patients. The fluctuating symptoms of this chloride channelopathy are discussed with respect to short-term fluctuations of myotoniain the sodium channelopathy of potassium-aggravated myotonia. (C) 1998 John Wiley & Sons, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/09/20 alle ore 09:36:21