Neuromuscular Disorders
Volume 19, Issue 12 , Pages 813-817 , December 2009

Autosomal recessive inheritance of classic Bethlem myopathy

  • A. Reghan Foley

      Affiliations

    • Division of Neurology, The Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, United States
    • ,
  • Ying Hu

      Affiliations

    • Division of Neurology, The Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, United States
    • ,
  • Yaqun Zou

      Affiliations

    • Division of Neurology, The Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, United States
    • ,
  • Alexandra Columbus

      Affiliations

    • Division of Neurology, The Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, United States
    • ,
  • John Shoffner

      Affiliations

    • Medical Neurogenetics LLC, Atlanta, GA, United States
    • ,
  • Diane M. Dunn

      Affiliations

    • The Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT, United States
    • ,
  • Robert B. Weiss

      Affiliations

    • The Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT, United States
    • ,
  • Carsten G. Bönnemann

      Affiliations

    • Division of Neurology, The Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, United States
    • Corresponding Author InformationCorresponding author. Address: The Children’s Hospital of Philadelphia, Abramson Research Center, Rm. 516I, 34th Street & Civic Center Blvd., Philadelphia, PA 19104, United States. Tel.: +1 215 590 7490; fax: +1 215 590 3709.

Received 18 July 2009 ,Revised 25 September 2009 ,Accepted 30 September 2009.

References 

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  24. Ball S, Bella J, Kielty C, Shuttleworth A. Structural basis of type VI collagen dimer formation. J Biol Chem. 2003;278:15326–15332

PII: S0960-8966(09)00650-6

doi: 10.1016/j.nmd.2009.09.010

Neuromuscular Disorders
Volume 19, Issue 12 , Pages 813-817 , December 2009

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