Fever-related ataxia: a case report of CAPOS syndrome

BACKGROUND: CAPOS (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss) syndrome is caused by the heterozygous mutation, c.2452G > A, in the ATP1A3 gene. Other mutations in this gene can cause a spectrum of overlapping phenotypes including alternating hemiplegia...

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Detalles Bibliográficos
Autores principales: Stenshorne, Ida, Rasmussen, Magnhild, Salvanos, Panagiotis, Tallaksen, Chantal M. E., Bindoff, Laurence A., Koht, Jeanette
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368810/
https://www.ncbi.nlm.nih.gov/pubmed/31410291
http://dx.doi.org/10.1186/s40673-019-0096-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368810/
https://www.ncbi.nlm.nih.gov/pubmed/31410291
http://dx.doi.org/10.1186/s40673-019-0096-3

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