Article
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
Brain : a journal of neurology - 1 Dec 2013
Krieger Michael, Roos Andreas, Stendel Claudia, Claeys Kristl G, Sonmez Fatma Mujgan, Baudis Michael, Bauer Peter, Bornemann Antje, de Goede Christian, Dufke Andreas, Finkel Richard S, Goebel Hans H, Häussler Martin, Kingston Helen, Kirschner Janbernd, Medne Livija, Muschke Petra, Rivier François, Rudnik-Schöneborn Sabine, Spengler Sabrina, Inzana Francesca, Stanzial Franco, Benedicenti Francesco, Synofzik Matthis, Lia Taratuto Ana, Pirra Laura, Tay Stacey Kiat-Hong, Topaloglu Haluk, Uyanik Gökhan, Wand Dorothea, Williams Denise, Zerres Klaus, Weis Joachim, Senderek Jan
Abstract excerpt
Marinesco-Sjögren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More recently, mutations in the SIL1 gene, which encodes an endoplasmic reticulum resident co-chaperone, were identified as the main cause of Marinesco-Sjögren syndrome. Here we describe the results of...
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