Neuromuscular Disorders
Volume 22, Issue 3 , Pages 231-243 , March 2012

Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene

  • María J. Mazón

      Affiliations

    • Instituto de Investigaciones Biomédicas “Alberto Sols”, Departamento de Bioquímica, CSIC-UAM, Madrid, Spain
    • ,
  • Francisco Barros

      Affiliations

    • Departamento de Bioquímica y Biología Molecular, Universidad de Oviedo, Spain
    • ,
  • Pilar De la Peña

      Affiliations

    • Departamento de Bioquímica y Biología Molecular, Universidad de Oviedo, Spain
    • ,
  • Juan F. Quesada

      Affiliations

    • Unidad de Genética Molecular, INGEMM, CIBERER, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain
    • ,
  • Adela Escudero

      Affiliations

    • Unidad de Genética Molecular, INGEMM, CIBERER, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain
    • ,
  • Ana M. Cobo

      Affiliations

    • Unidad de Diagnóstico Molecular, Hospital Donostia, San Sebastián, Guipúzcoa, Spain
    • Current address: Centre de Référence Maladies Neuromusculaires GNMH, Hôpital Marin, AP-HP, Hendaye, France.
    • ,
  • Samuel I. Pascual-Pascual

      Affiliations

    • Servicio de Neurología Pediátrica, Hospital Universitario La Paz, Madrid, Spain
    • ,
  • Eduardo Gutiérrez-Rivas

      Affiliations

    • Servicio de Neurología, Hospital Doce de Octubre, Madrid, Spain
    • ,
  • Encarna Guillén

      Affiliations

    • Unidad de Genética Molecular, Facultad de Medicina, Murcia, Spain
    • ,
  • Javier Arpa

      Affiliations

    • Servicio de Neurología, Hospital Universitario La Paz, Madrid, Spain
    • ,
  • Pilar Eraso

      Affiliations

    • Instituto de Investigaciones Biomédicas “Alberto Sols”, Departamento de Bioquímica, CSIC-UAM, Madrid, Spain
    • ,
  • Francisco Portillo

      Affiliations

    • Instituto de Investigaciones Biomédicas “Alberto Sols”, Departamento de Bioquímica, CSIC-UAM, Madrid, Spain
    • ,
  • Jesús Molano

      Affiliations

    • Unidad de Genética Molecular, INGEMM, CIBERER, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain
    • Corresponding Author InformationCorresponding author. Address: Unidad de Genética Molecular, Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Paseo Castellana 261, Madrid 28046, Spain. Tel.: +34 917277381; fax: +34 912071468.

Received 29 May 2011 ,Revised 9 October 2011 ,Accepted 13 October 2011.

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PII: S0960-8966(11)01371-X

doi: 10.1016/j.nmd.2011.10.013

Neuromuscular Disorders
Volume 22, Issue 3 , Pages 231-243 , March 2012

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