Marinesco-Sjogren Syndrome and SIL1 Mutations

J Gordon Millichap

doi:10.15844/pedneurbriefs-28-2-9

Marinesco-Sjogren Syndrome and SIL1 Mutations

Pediatric Neurology Briefs

Volume 28 (2014): Issue 2

By: J Gordon Millichap

Open Access

|Feb 2014

Abstract

Investigators from Aachen University, Germany, and multiple centers in Europe, UK, USA, Turkey and Argentina, report the results of SIL1 mutation analysis in 62 patients presenting with early-onset ataxia, cataracts and myopathy, the characteristic Marinesco-Sjogren syndrome triad.

References

Krieger M Roos A Stendel C Claeys KG Sonmez FM Baudis M SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome Brain 2013 Dec 136 Pt 12 3634 44 10.1093/brain/awt283 24176978
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Senderek J Krieger M Stendel C Bergmann C Moser M Breitbach-Faller N Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy Nat Genet 2005 Dec 37 12 1312 4 10.1038/ng1678 16282977
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Millichap JG Neurological Syndromes 2013 New York Springer 279 10.1007/978-1-4614-7786-0
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-28-2-9 | Journal eISSN: 2166-6482

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Language: English

Page range: 15 - 15

Published on: Feb 1, 2014

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

SIL1,

Hypergonadotropic Hypogonadism,

Scoliosis

© 2014 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 28 (2014): Issue 2