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Titolo:
Hereditary neuralgic amyotrophy (HNA) is genetically heterogeneous
Autore:
Kuhlenbaumer, G; Meuleman, J; De Jonghe, P; Falck, B; Young, P; Hunermund, G; Van Broeckhoven, C; Timmerman, V; Stogbauer, F;
Indirizzi:
Univ Munster, Dept Neurol, D-48139 Munster, Germany Univ Munster MunsterGermany D-48139 pt Neurol, D-48139 Munster, Germany Univ Instelling Antwerp, VIB, Flanders Interuniv Inst Biotechnol, Dept MolGenet, B-2610 Antwerp, Belgium Univ Instelling Antwerp Antwerp Belgium B-2610 , B-2610 Antwerp, Belgium
Titolo Testata:
JOURNAL OF NEUROLOGY
fascicolo: 10, volume: 248, anno: 2001,
pagine: 861 - 865
SICI:
0340-5354(200110)248:10<861:HNA(IG>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHROMOSOME 17Q25; MAP; REFINEMENT; NEUROPATHY; LINKAGE; LOCUS;
Keywords:
hereditary neuralgic amyotrophy; neurogenetics; neuromuscular disorders; genetic heterogeneity;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
14
Recensione:
Indirizzi per estratti:
Indirizzo: Stogbauer, F Univ Munster, Dept Neurol, Albert Schweitzer Str 33, D-48139 Munster, Germany Univ Munster Albert Schweitzer Str 33 Munster Germany D-48139
Citazione:
G. Kuhlenbaumer et al., "Hereditary neuralgic amyotrophy (HNA) is genetically heterogeneous", J NEUROL, 248(10), 2001, pp. 861-865

Abstract

Hereditary Neuralgic Amyotrophy (HNA) is an autosomal dominantly inheritedrecurrent focal neuropathy affecting mainly the brachial plexus. Linkage to markers on chromosome 17q25 was found in 1996 and subsequent reports confirmed linkage of HNA to this locus. Recently a family with a chronic undulating rather than remitting-relapsing clinical course of HNA was described by a Dutch group. This family did not have linkage to the 17q25 locus. Here we describe for the first time clinically and genetically two families withclassic remitting-relap sing HNA that are not linked to the previously described HNA locus on chromosome 17q25. These results demonstrate that clinically homogeneous classical HNA is genetically heterogeneous.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/01/21 alle ore 02:18:08