Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
REFINEMENT OF THE HEREDITARY NEURALGIC AMYOTROPHY (HNA) LOCUS TO CHROMOSOME 17Q24-Q25
Autore:
STOGBAUER F; YOUNG P; TIMMERMAN V; SPOELDERS P; RINGELSTEIN EB; VANBROECKHOVEN C; KURLEMANN G;
Indirizzi:
UNIV HOSP MUNSTER,DEPT NEUROL,ALBERT SCHWEITZER STR 33 D-48129 MUNSTER GERMANY UNIV INSTELLING ANTWERP,BBS,DEPT BIOCHEM,LAB NEUROGENET,VIB,FLANDERS INTERUNIV INST BIOTECHNOL B-2610 ANTWERP BELGIUM UNIV HOSP MUNSTER,DEPT NEUROPEDIAT D-48129 MUNSTER GERMANY
Titolo Testata:
Human genetics
fascicolo: 5, volume: 99, anno: 1997,
pagine: 685 - 687
SICI:
0340-6717(1997)99:5<685:ROTHNA>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
LINKAGE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
13
Recensione:
Indirizzi per estratti:
Citazione:
F. Stogbauer et al., "REFINEMENT OF THE HEREDITARY NEURALGIC AMYOTROPHY (HNA) LOCUS TO CHROMOSOME 17Q24-Q25", Human genetics, 99(5), 1997, pp. 685-687

Abstract

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant, recurrent focal neuropathy characterized by episodes of painful brachial plexus neuropathy with muscle weakness and atrophy, as well as sensory disturbances. Single episodes are commonly preceded by unspecific infections or immunization, or are associated with parturition. Minor facial dysmorphic features are present in some pedigrees but do not clearlysegregate with the disease. To confirm the recently described HNA locus on distal chromosome 17q, we performed a genetic linkage study in an extended Turkish pedigree. We were able to refine the HNA locus on chromosome 17q24-q25 in a 16-cM region.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/01/21 alle ore 02:58:50