Clinical and genetic characterization of manifesting carriers of DMD mutations

Soltanzadeh, Payam; Friez, Michael J.; Dunn, Diane; von Niederhausern, Andrew; Gurvich, Olga L.; Swoboda, Kathryn J.; Sampson, Jacinda B.; Pestronk, Alan; Connolly, Anne M.; Florence, Julaine M.; Finkel, Richard S.; Bönnemann, Carsten G.; Medne, Livija; Mendell, Jerry R.; Mathews, Katherine D.; Wong, Brenda L.; Sussman, Michael D.; Zonana, Jonathan; Kovak, Karen; Gospe, Sidney M.; Gappmaier, Eduard; Taylor, Laura E.; Howard, Michael T.; Weiss, Robert B.; Flanigan, Kevin M.

doi:10.1016/j.nmd.2010.05.010

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Volume 20, Issue 8 , Pages 499-504, August 2010

Clinical and genetic characterization of manifesting carriers of DMD mutations

Payam Soltanzadeh
- Department of Human Genetics, University of Utah, Salt Lake City, UT, USA
Michael J. Friez
- Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC, USA
Diane Dunn
- Department of Human Genetics, University of Utah, Salt Lake City, UT, USA
Andrew von Niederhausern
- Department of Human Genetics, University of Utah, Salt Lake City, UT, USA
Olga L. Gurvich
- Department of Human Genetics, University of Utah, Salt Lake City, UT, USA
- Present address: Cork Cancer Research Centre, BioSciences Institute, University College Cork, Cork, Ireland.
Kathryn J. Swoboda
- Department of Neurology, University of Utah, Salt Lake City, UT, USA
- Department of Pediatrics, University of Utah, Salt Lake City, UT, USA
Jacinda B. Sampson
- Department of Neurology, University of Utah, Salt Lake City, UT, USA
Alan Pestronk
- Department of Neurology, Washington University, St. Louis, MO, USA
Anne M. Connolly
- Department of Neurology, Washington University, St. Louis, MO, USA
Julaine M. Florence
- Department of Neurology, Washington University, St. Louis, MO, USA
Richard S. Finkel
- Department of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Carsten G. Bönnemann
- Department of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Livija Medne
- Department of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Jerry R. Mendell
- Center for Gene Therapy, Nationwide Children’s Hospital, Department of Pediatrics, Ohio State University, Columbus, OH, USA
Katherine D. Mathews
- Department of Pediatrics, University of Iowa, Iowa City, IA, USA
Brenda L. Wong
- Departments of Neurology and Pediatrics, Cincinnati Children’s Hospital, Cincinnati, OH, USA
Michael D. Sussman
- Department of Orthopedic Surgery, Shriners Hospital for Children, Portland, OR, USA
Jonathan Zonana
- Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA
Karen Kovak
- Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA
Sidney M. Gospe Jr.
- Departments of Neurology and Pediatrics, University of Washington, Division of Pediatric Neurology, Seattle Children’s Hospital, Seattle, WA, USA
Eduard Gappmaier
- Department of Physical Therapy, University of Utah, Salt Lake City, UT, USA
Laura E. Taylor
- Center for Gene Therapy, Nationwide Children’s Hospital, Department of Pediatrics, Ohio State University, Columbus, OH, USA
Michael T. Howard
- Department of Human Genetics, University of Utah, Salt Lake City, UT, USA
Robert B. Weiss
- Department of Human Genetics, University of Utah, Salt Lake City, UT, USA
Kevin M. Flanigan
- Center for Gene Therapy, Nationwide Children’s Hospital, Department of Pediatrics, Ohio State University, Columbus, OH, USA
- Corresponding author. Address: Center for Gene Therapy, Nationwide Children’s Hospital, 700 Children’s Drive, WA4023, Columbus, OH 43205, USA. Tel.: +1 614 355 2947; fax: +1 614 722 3273.