Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15)

Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15)

Abstract 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 cl...

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Bibliographic Details
Main Authors: Mohammed Z. Seidahmed, Muddathir H. Hamad, Albandary AlBakheet, Salah A. Elmalik, Abdulmajeed AlDrees, Jumanah Al-Sufayan, Ibrahim Alorainy, Ibrahim M. Ghozzi, Dilek Colak, Mustafa A. Salih, Namik Kaya
Format: Article
Language:English
Published: BMC 2020-05-01
Series:BMC Neurology
Subjects:
Salih ataxia
SCAR15
RUBCN
Founder mutation
Online Access:http://link.springer.com/article/10.1186/s12883-020-01761-w

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http://link.springer.com/article/10.1186/s12883-020-01761-w

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