CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait

We describe a consanguineous Iraqi family in which affected siblings had mild mental retardation and congenital ataxia characterized by quadrupedal gait. Genome-wide linkage analysis identified a 5.8 Mb interval on chromosome 8q with shared homozygosity among the affected persons. Sequencing of gene...

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Detalles Bibliográficos
Autores principales: Türkmen, Seval, Guo, Gao, Garshasbi, Masoud, Hoffmann, Katrin, Alshalah, Amjad J., Mischung, Claudia, Kuss, Andreas, Humphrey, Nicholas, Mundlos, Stefan, Robinson, Peter N.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2677160/
https://www.ncbi.nlm.nih.gov/pubmed/19461874
http://dx.doi.org/10.1371/journal.pgen.1000487

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2677160/
https://www.ncbi.nlm.nih.gov/pubmed/19461874
http://dx.doi.org/10.1371/journal.pgen.1000487

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