Genetic Conditions > Marinesco-Sjögren syndrome >

References

These sources were used to develop the Genetics Home Reference condition summary on Marinesco-Sjögren syndrome.

Anttonen AK, Mahjneh I, Hämäläinen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE. The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet. 2005 Dec;37(12):1309-11. Epub 2005 Nov 13. PubMed citation
Anttonen AK, Siintola E, Tranebjaerg L, Iwata NK, Bijlsma EK, Meguro H, Ichikawa Y, Goto J, Kopra O, Lehesjoki AE. Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome. Eur J Hum Genet. 2008 Aug;16(8):961-9. doi: 10.1038/ejhg.2008.22. Epub 2008 Feb 20. PubMed citation
Eriguchi M, Mizuta H, Kurohara K, Fujitake J, Kuroda Y. Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjögren syndrome. J Neurol Sci. 2008 Jul 15;270(1-2):197-200. doi: 10.1016/j.jns.2008.02.012. Epub 2008 Apr 18. PubMed citation
Mahjneh I, Anttonen AK, Somer M, Paetau A, Lehesjoki AE, Somer H, Udd B. Myopathy is a prominent feature in Marinesco-Sjögren syndrome: A muscle computed tomography study. J Neurol. 2006 Mar;253(3):301-6. Epub 2005 Sep 15. PubMed citation
Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schöneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schröder JM, Lochmüller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K. Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet. 2005 Dec;37(12):1312-4. Epub 2005 Nov 13. PubMed citation


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