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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...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2019
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| Materias: | |
| 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 |