Neuromuscular Disorders
Volume 17, Issue 7 , Pages 547-557 , July 2007

Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families

  • Rachel A. Peat

      Affiliations

    • The Neurogenetics Research Unit, Children’s Hospital at Westmead and the Discipline of Paediatrics and Child Health, University of Sydney, Australia
    • These authors contributed equally to this work.
    • ,
  • Naomi L. Baker

      Affiliations

    • Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children’s Hospital, Parkville, 3052 Vic., Australia
    • These authors contributed equally to this work.
    • ,
  • Kristi J. Jones

      Affiliations

    • The Neurogenetics Research Unit, Children’s Hospital at Westmead and the Discipline of Paediatrics and Child Health, University of Sydney, Australia
    • Western Sydney Genetics Programme, Children’s Hospital at Westmead, Sydney, Australia
    • ,
  • Kathryn N. North

      Affiliations

    • The Neurogenetics Research Unit, Children’s Hospital at Westmead and the Discipline of Paediatrics and Child Health, University of Sydney, Australia
    • ,
  • Shireen R. Lamandé

      Affiliations

    • Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children’s Hospital, Parkville, 3052 Vic., Australia
    • Corresponding Author InformationCorresponding author. Tel.: +61 3 9345 6650; fax: +61 3 9345 7997.

Received 23 November 2006 ,Revised 16 March 2007 ,Accepted 27 March 2007.

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PII: S0960-8966(07)00115-0

doi: 10.1016/j.nmd.2007.03.017

Neuromuscular Disorders
Volume 17, Issue 7 , Pages 547-557 , July 2007

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