Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

BACKGROUND: Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. Affected individuals exhibit cerebellar dysfunction and often have cerebellar atrophy on neuroimaging...

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Detalles Bibliográficos
Autores principales: Zambonin, Jessica L., Bellomo, Allison, Ben-Pazi, Hilla, Everman, David B., Frazer, Lee M., Geraghty, Michael T., Harper, Amy D., Jones, Julie R., Kamien, Benjamin, Kernohan, Kristin, Koenig, Mary Kay, Lines, Matthew, Palmer, Elizabeth Emma, Richardson, Randal, Segel, Reeval, Tarnopolsky, Mark, Vanstone, Jason R., Gibbons, Melissa, Collins, Abigail, Fogel, Brent L., Dudding-Byth, Tracy, Boycott, Kym M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490223/
https://www.ncbi.nlm.nih.gov/pubmed/28659154
http://dx.doi.org/10.1186/s13023-017-0672-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490223/
https://www.ncbi.nlm.nih.gov/pubmed/28659154
http://dx.doi.org/10.1186/s13023-017-0672-7

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