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Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15)
BACKGROUND: Homozygous frameshift mutation in RUBCN (KIAA0226), known to result in endolysosomal machinery defects, has previously been reported in a single Saudi family with autosomal recessive spinocerebellar ataxia (Salih ataxia, SCAR15, OMIM # 615705). The present report describes the clinical,...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249383/ https://www.ncbi.nlm.nih.gov/pubmed/32450808 http://dx.doi.org/10.1186/s12883-020-01761-w |