Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Electrical myotonia in heterozygous carriers of recessive myotonia congenita
Autore:
Deymeer, F; Lehmann-Horn, F; Serdaroglu, P; Cakirkaya, S; Benz, S; Rudel, R; Ozdemir, C;
Indirizzi:
Univ Istanbul, Fac Med, Dept Neurol, TR-34390 Istanbul, Turkey Univ Istanbul Istanbul Turkey TR-34390 Neurol, TR-34390 Istanbul, Turkey Univ Ulm, Dept Physiol, D-89069 Ulm, Germany Univ Ulm Ulm Germany D-89069 niv Ulm, Dept Physiol, D-89069 Ulm, Germany
Titolo Testata:
MUSCLE & NERVE
fascicolo: 1, volume: 22, anno: 1999,
pagine: 123 - 125
SICI:
0148-639X(199901)22:1<123:EMIHCO>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
MUSCLE CHLORIDE CHANNEL; MUTATIONS;
Keywords:
electrical myotonia; heterozygous carrier; recessive myotonia congenita; recessive generalized myotonia;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
10
Recensione:
Indirizzi per estratti:
Indirizzo: Deymeer, F Univ Istanbul, Fac Med, Dept Neurol, TR-34390 Istanbul, Turkey Univ Istanbul Istanbul Turkey TR-34390 34390 Istanbul, Turkey
Citazione:
F. Deymeer et al., "Electrical myotonia in heterozygous carriers of recessive myotonia congenita", MUSCLE NERV, 22(1), 1999, pp. 123-125

Abstract

We investigated electrophysiologically the unaffected parents of patients with recessive myotonia congenita. We studied 18 families, in nine of whichthe diagnosis was confirmed by molecular genetics. Brief myotonic discharges were present in at least one parent in 67% of the families. Fathers weremore likely than mothers to show these discharges. The difficulty in distinguishing very mildly affected parents with dominant myotonia congenita from the heterozygous carriers of recessive myotonia congenita is stressed. (C) 1999 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 12:04:27