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Titolo:
Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25
Autore:
Meuleman, J; Kuhlenbaumer, G; Schirmacher, A; Wehnert, M; De Jonghe, P; De Vriendt, E; Young, P; Airaksinen, E; Pou-Serradell, A; Prats, JM; Ringelstein, B; Stogbauer, F; Van Broeckhoven, C; Timmerman, V;
Indirizzi:
Univ Antwerp, Dept Biochem, Genet Mol Lab, Peripheral Neuropathy Grp, B-2610 Antwerp, Belgium Univ Antwerp Antwerp Belgium B-2610 ropathy Grp, B-2610 Antwerp, Belgium Univ Antwerp, Dept Biochem, Born Bunge Fdn,FLanders Interuniv Inst Biotechnol, Dept Mol Genet, B-2610 Antwerp, Belgium Univ Antwerp Antwerp BelgiumB-2610 t Mol Genet, B-2610 Antwerp, Belgium Univ Hosp Munster, Dept Neurol, Munster, Germany Univ Hosp Munster Munster Germany unster, Dept Neurol, Munster, Germany Univ Greifswald, Inst Human Genet, Greifswald, Germany Univ Greifswald Greifswald Germany nst Human Genet, Greifswald, Germany Univ Antwerp Hosp, Div Neurol, Antwerp, Belgium Univ Antwerp Hosp Antwerp Belgium rp Hosp, Div Neurol, Antwerp, Belgium Univ Barcelona, Dept Neurol, Barcelona, Spain Univ Barcelona Barcelona Spain Barcelona, Dept Neurol, Barcelona, Spain Hosp Cruces, Dept Pediat, Baracaldo, Spain Hosp Cruces Baracaldo SpainHosp Cruces, Dept Pediat, Baracaldo, Spain
Titolo Testata:
EUROPEAN JOURNAL OF HUMAN GENETICS
fascicolo: 8, volume: 7, anno: 1999,
pagine: 920 - 927
SICI:
1018-4813(199912)7:8<920:GROTHN>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
BRACHIAL-PLEXUS NEUROPATHY; LINKAGE;
Keywords:
hereditary neuralgic amyotrophy; molecular genetics; linkage analysis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
21
Recensione:
Indirizzi per estratti:
Indirizzo: Timmerman, V Univ Antwerp, Dept Biochem, Genet Mol Lab, Peripheral Neuropathy Grp, UnivPl 1, B-2610 Antwerp, Belgium Univ Antwerp Univ Pl 1 Antwerp Belgium B-2610 twerp, Belgium
Citazione:
J. Meuleman et al., "Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25", EUR J HUM G, 7(8), 1999, pp. 920-927

Abstract

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant, recurrent focal neuropathy. HNA is characterised by episodes of painful brachial plexus neuropathy with muscle weakness and atrophy, as well as sensory disturbances. Single episodes are commonly preceded by non-specific infections, immunisations or parturition. Mild dysmorphic features and short stature are present in some HNA families, but absolute co-segregation with HNA has not been described. To refine the previously described HNA locus on chromosome 17q25, we performed a genetic linkage study in five HNA families with different geographic origins. Significant linkage was obtained with chromosome 17q24-q25 short tandem repeat (STR) markers in three HNA families and suggestive linkage was found in the other two HNA families. Analysis of the informative recombinations in affected individuals allowed us to reduce the HNA linkage interval to a candidate region of 3.5 cM.

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Documento generato il 27/01/21 alle ore 01:02:42