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Titolo:
ARTHROGRYPOSIS MULTIPLEX CONGENITA IN AN ARAB KINDRED - UPDATE
Autore:
JABER L; WEITZ R; BU XD; FISCHELGHODSIAN N; ROTTER JI; SHOHAT M;
Indirizzi:
TEL AVIV UNIV,BEILINSON MED CTR,DEPT MED GENET IL-49100 PETAH TIQWA ISRAEL TEL AVIV UNIV,BEILINSON MED CTR,DEPT MED GENET IL-49100 PETAH TIQWA ISRAEL TEL AVIV UNIV,BEILINSON MED CTR,DEPT PEDIAT NEUROL IL-49100 PETAH TIQWA ISRAEL TEL AVIV UNIV,SACKLER FAC MED IL-49100 PETAH TIQWA ISRAEL UNIV CALIF LOS ANGELES,CEDARS SINAI MED CTR,DIV MED GENET LOS ANGELESCA 90048
Titolo Testata:
American journal of medical genetics
fascicolo: 3, volume: 55, anno: 1995,
pagine: 331 - 334
SICI:
0148-7299(1995)55:3<331:AMCIAA>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Keywords:
ATHROGRYPOSIS MULTIPLEX CONGENITA; ARAB; KINDRED; AUTOSOMAL; RECESSIVE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
13
Recensione:
Indirizzi per estratti:
Citazione:
L. Jaber et al., "ARTHROGRYPOSIS MULTIPLEX CONGENITA IN AN ARAB KINDRED - UPDATE", American journal of medical genetics, 55(3), 1995, pp. 331-334

Abstract

We have restudied the genetic and clinical characteristics of a largeArab kindred previously reported in 1970 by Lebenthal et al. [Pediatrics 46:891-899]. At total of 40 affected individuals was identified; all, except one, were products of 22 different consanguineous matings between the parents. The syndrome, which is present at birth, is expressed mainly by flexion contractures at the knees and elbows, with muscle hypotrophy/weakness around the involved joints. Five of the 6 individuals who were originally reported as having congenital and lethal heart defects were limited to one sibship. None of the new cases had heart defect or any associated malformation. Neurologic examination and electrophysiological studies demonstrated a neuropathic (non-myopathic) type of arthrogryposis. This is an autosomal recessive trait with widevariability in expression and possibly incomplete penetrance in the females. Because of the high consanguinity rate, it allows the use of homozygosity linkage studies to map the gene for this disorder. (C) 1995 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/09/20 alle ore 12:34:38