Exclusion of linkage to chromosome 14q in a large South Tyrolean family with Idiopathic Basal Ganglia Calcification (IBGC).
Am J Med Genet B Neuropsychiatr Genet
; 147B(7): 1319-22, 2008 Oct 05.
Article
em En
| MEDLINE
| ID: mdl-18361429
ABSTRACT
Familial Idiopathic Basal Ganglia Calcification (FIBGC) is a neurodegenerative syndrome that usually follows an autosomal dominant pattern of inheritance. Linkage to only one locus on chromosome 14q (IBCG1) has been described so far. We identified and characterized a large multigenerational Italian family from a population isolate with 14 FIBGC affected members. Linkage analysis excluded the IBCG1 locus, thus demonstrating further locus heterogeneity for this disease.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doenças dos Gânglios da Base
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Cromossomos Humanos Par 14
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Calcinose
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Ligação Genética
Tipo de estudo:
Prognostic_studies
Limite:
Adult
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Aged
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Female
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Humans
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Male
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Middle aged
País como assunto:
Europa
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article