A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation

OBJECTIVE: To identify the genetic cause of autosomal dominant spinocerebellar ataxia and retinitis pigmentosa in a large extended pedigree. METHODS: Clinical studies were done at 4 referral centers. Ten individuals in the same extended family participated in at least a portion of the study. Records...

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Detalles Bibliográficos
Autores principales: Xiao, Changrui, Binkley, Elaine M., Rexach, Jessica, Knight-Johnson, Amy, Khemani, Pravin, Fogel, Brent L., Das, Soma, Stone, Edwin M., Gomez, Christopher M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6812731/
https://www.ncbi.nlm.nih.gov/pubmed/31750392
http://dx.doi.org/10.1212/NXG.0000000000000357

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6812731/
https://www.ncbi.nlm.nih.gov/pubmed/31750392
http://dx.doi.org/10.1212/NXG.0000000000000357

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