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Titolo:
HEREDITARY GENIOSPASM - LINKAGE TO CHROMOSOME 9Q13-Q21 AND EVIDENCE FOR GENETIC-HETEROGENEITY
Autore:
JARMAN PR; WOOD NW; DAVIS MT; DAVIS PV; BHATIA KP; MARSDEN CD; DAVIS MB;
Indirizzi:
UNIV LONDON,INST NEUROL,DEPT CLIN NEUROL,QUEEN SQ LONDON WC1N 3BG ENGLAND UNIV LONDON,INST NEUROL,DEPT CLIN NEUROL LONDON WC1N 3BG ENGLAND UNIV ALBERTA,DEPT FAMILY MED EDMONTON AB T6G 2M7 CANADA
Titolo Testata:
American journal of human genetics
fascicolo: 4, volume: 61, anno: 1997,
pagine: 928 - 933
SICI:
0002-9297(1997)61:4<928:HG-LTC>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
IDIOPATHIC TORSION DYSTONIA; POTASSIUM CHANNEL GENE; PERIODIC PARALYSIS; ESSENTIAL TREMOR; TREMBLING CHIN; CHOREOATHETOSIS; MUTATIONS; FAMILY; TOXIN; ONSET;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
33
Recensione:
Indirizzi per estratti:
Citazione:
P.R. Jarman et al., "HEREDITARY GENIOSPASM - LINKAGE TO CHROMOSOME 9Q13-Q21 AND EVIDENCE FOR GENETIC-HETEROGENEITY", American journal of human genetics, 61(4), 1997, pp. 928-933

Abstract

Hereditary geniospasm is an unusual movement disorder causing episodes of involuntary tremor of the chin and the lower lip. Episodes typically start in early childhood and may be precipitated by stress, concentration, and emotion. Hereditary geniospasm is inherited as an autosomal dominant trait, and its cause is not known. We report the results of a genomewide genetic linkage study in a four-generation British family with hereditary geniospasm. Positive two-point LOD scores were obtained for 15 microsatellite markers on the peri-centromeric region of chromosome 9. A maximum two-point LOD score of 5.24 at theta = .00 was obtained for the marker D9S1837. Construction of haplotypes defined aninterval of 2.1 cM between the nanking markers D9S1806 and D9S175, thus assigning one locus for hereditary geniospasm to the proximal long arm of chromosome 9q13-q21. Hereditary geniospasm in a second British family is not linked to this region, indicating genetic heterogeneity. These findings may have implications for other inherited focal movement disorders that as yet remain unmapped.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/10/20 alle ore 05:34:29