X-linked congenital ataxia: a new locus maps to Xq25-q27.1.

doi:10.1002/ajmg.a.32186

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Article

X-linked congenital ataxia: a new locus maps to Xq25-q27.1.

American journal of medical genetics. Part A - 1 Mar 2008

Zanni Ginevra, Bertini Enrico, Bellcross Cecelia, Nedelec Brigitte, Froyen Guy, Neuhäuser Gerhard, Opitz John M, Chelly Jamel

Abstract excerpt

We report clinical and molecular studies on a large American family of Norwegian descent with X-linked nonprogressive congenital ataxia (XCA) in six affected males over three generations. Neuroimaging showed global cerebellar hypoplasia without evidence of supratentorial anomalies. Linkage analysis resulted in a maximum LOD score Z = 3.44 for marker DXS1192 at Theta = 0.0 with flanking markers DXS1047 and DXS1227...

Topics

Ataxia
Chromosome Mapping
Chromosomes, Human, X
Genetic Diseases, X-Linked
Genetic Linkage
Genotype
Humans
Male
Pedigree

Source

Open in PubMed

Identifiers

PMID: 18241076
DOI: 10.1002/ajmg.a.32186

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