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Multiple cerebral cavernous malformations and a novel CCM3 germline deletion in a German family

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References

  1. Craig HD, Gunel M, Cepeda O, Johnson EW, Ptacek L, Steinberg GK, Ogilvy CS, Berg MJ, Crawford SC, Scott RM, Steichen-Gersdorf E, Sabroe R, Kennedy CT, Mettler G, Beis MJ, Fryer A, Awad IA, Lifton RP (1998) Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15–13 and 3q25.2–27. Hum Mol Genet 7:1851–1858

    Article  CAS  PubMed  Google Scholar 

  2. Guclu B, Ozturk AK, Pricola KL, Bilguvar K, Shin D, O’Roak BJ, Gunel M (2005) Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3. Neurosurgery 57:1008–1013

    Article  PubMed  Google Scholar 

  3. Labauge P, Denier C, Bergametti F, Tournier-Lasserve E (2007) Genetics of cavernous angiomas. Lancet Neurol 6:237–244

    Article  CAS  PubMed  Google Scholar 

  4. Liquori CL, Berg MJ, Squitieri F, Ottenbacher M, Sorlie M, Leedom TP, Cannella M, Maglione V, Ptacek L, Johnson EW, Marchuk DA (2006) Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus. Hum Mutat 27:118

    Article  PubMed  Google Scholar 

  5. Liquori CL, Penco S, Gault J, Leedom TP, Tassi L, Esposito T, Awad IA, Frati L, Johnson EW, Squitieri F, Marchuk DA, Gianfrancesco F (2008) Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts. Neurogenetics 9:25–31

    Article  CAS  PubMed  Google Scholar 

  6. Verlaan DJ, Roussel J, Laurent SB, Elger CE, Siegel AM, Rouleau GA (2005) CCM3 mutations are uncommon in cerebral cavernous malformations. Neurology 65:1982–1983

    Article  CAS  PubMed  Google Scholar 

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Conflict of interest statement

The authors report no conflicts of interest.

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Authors and Affiliations

  1. Department of Neurology, Universitätsklinikum Eppendorf, Hamburg, Germany

    Chi-un Choe, Christian Gerloff & Michael Orth

  2. AP-HP, Groupe hospitalier Lariboisiere-Fernand-Widal, Laboratoire de Génétique, INSERM UMR-S 740, Faculté de Médecine, Université Paris 7-Denis Diderot, Site Lariboisière, Paris, 75010, France

    Florence Riant & Elisabeth Tournier-Lasserve

  3. Department of Neurology, Universitätsklinikum Ulm, Oberer Eselsberg 45/1, 89081, Ulm, Germany

    Michael Orth

Authors
  1. Chi-un Choe
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  2. Florence Riant
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  3. Christian Gerloff
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  4. Elisabeth Tournier-Lasserve
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  5. Michael Orth
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Corresponding author

Correspondence to Michael Orth.

Additional information

C. Choe and F. Riant contributed equally to this study.

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Choe, Cu., Riant, F., Gerloff, C. et al. Multiple cerebral cavernous malformations and a novel CCM3 germline deletion in a German family. J Neurol 257, 2097–2098 (2010). https://doi.org/10.1007/s00415-010-5648-7

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  • DOI: https://doi.org/10.1007/s00415-010-5648-7

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