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Autosomal dominant spastic paraplegia with sensory deficits and muscle wasting (SPG36) maps to chromosome 12q23–24

R Schüle, A Dürr, S Forlani, J Kassubek, S Klimpe, B van de Warrenburg, L Schöls · Aktuelle Neurologie · 2007 · Heft 09

Dokument
1106489
CareLit-ID
Jahr
2007
Publikation
PDF
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Metadaten
DOI
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Bibliografische Angaben

Zeitschrift
Aktuelle Neurologie
Autor:innen
R Schüle, A Dürr, S Forlani, J Kassubek, S Klimpe, B van de Warrenburg, L Schöls
Ausgabe
Heft 09 / 2007
Seiten
–
Erschienen: 2007-09-11 00:00:00
ISSN
0302-4350

Zusammenfassung

Background: Spastic paraplegias are a genetically heterogenous group of disorders. So far, over 30 genes or loci for SP have been described, among them 13 loci for autosomal dominant disease. Objective: Mapping of a novel autosomal dominant SP locus, sequencing of candidate genes and phenotypic description. Design/methods: A genome wide linkage analysis using Human Mapping 10K SNP Microarrays was performed in a large three generation family with pure autosomal dominant SP. Linkage to known loci of autosomal dominant SP loci was excluded previously. DNA of 14 family members (7 affected, 7 healthy) was available.…

Schlagworte

Atrophy Touch Aktuelle Neurologie