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Am J Med Genet B Neuropsychiatr Genet. 2008 Oct 5;147B(7):1319-22. doi: 10.1002/ajmg.b.30748.

Exclusion of linkage to chromosome 14q in a large South Tyrolean family with Idiopathic Basal Ganglia Calcification (IBGC).

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1
Institute of Genetic Medicine, European Academy, Bolzano, Italy. claudia.volpato@eurac.edu

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.

PMID:
18361429
DOI:
10.1002/ajmg.b.30748
[Indexed for MEDLINE]
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