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,...

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書誌詳細
出版年:BMC Neurol
主要な著者: Seidahmed, Mohammed Z., Hamad, Muddathir H., AlBakheet, Albandary, Elmalik, Salah A., AlDrees, Abdulmajeed, Al-Sufayan, Jumanah, Alorainy, Ibrahim, Ghozzi, Ibrahim M., Colak, Dilek, Salih, Mustafa A., Kaya, Namik
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2020
主題:
Case Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7249383/
https://ncbi.nlm.nih.gov/pubmed/32450808
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-020-01761-w
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