Article
Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2013
Horvers M, Anttonen A K, Lehesjoki A E, Morava E, Wortmann S, Vermeer S, van de Warrenburg B P, Willemsen M A
Abstract excerpt
BACKGROUND: Marinesco-Sjögren syndrome is an autosomal recessive cerebellar ataxia, characterised by cerebellar ataxia, myopathy, cataracts and intellectual disability, due to mutations in the SIL1 gene. METHODS: The clinical features and two novel SIL1 mutations of four Dutch patients with Marinesco-Sjögren syndrome are described and compared to the literature on genetically proven Marinesco-Sjögren patients....
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