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December 27, 2005

Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy

December 27, 2005 issue
65 (12) 1984-1986

Abstract

Associations between clinical phenotype (muscle weakness, dilated cardiomyopathy) and dystrophin abnormalities in muscle tissue among definite carriers of Duchenne (DMD) and Becker muscular dystrophy (BMD) were investigated. No associations between dystrophin abnormalities and clinical variables in DMD/BMD carriers were found. Because 26% of nonmanifesting carriers have dystrophin-negative fibers, this might be used in suspected DMD/BMD carriers in whom DNA analysis fails to give an answer about their carrier risk.

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Information & Authors

Information

Published In

Neurology®
Volume 65Number 12December 27, 2005
Pages: 1984-1986
PubMed: 16380627

Publication History

Published online: December 27, 2005
Published in print: December 27, 2005

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Authors

Affiliations & Disclosures

Edo M. Hoogerwaard, MD, PhD
From the Department of Neurology (Drs. Hoogerwaard and de Visser), Academic Medical Centre, University of Amsterdam; and Department of Human and Clinical Genetics (Drs. Ginjaar and Bakker), Leiden University Medical Center, The Netherlands. Dr. Hoogerwaard is currently with the Department of Neurology, Rijnstate Hospital, Arnhem.
Ieke B. Ginjaar, PhD
From the Department of Neurology (Drs. Hoogerwaard and de Visser), Academic Medical Centre, University of Amsterdam; and Department of Human and Clinical Genetics (Drs. Ginjaar and Bakker), Leiden University Medical Center, The Netherlands. Dr. Hoogerwaard is currently with the Department of Neurology, Rijnstate Hospital, Arnhem.
Egbert Bakker, PhD
From the Department of Neurology (Drs. Hoogerwaard and de Visser), Academic Medical Centre, University of Amsterdam; and Department of Human and Clinical Genetics (Drs. Ginjaar and Bakker), Leiden University Medical Center, The Netherlands. Dr. Hoogerwaard is currently with the Department of Neurology, Rijnstate Hospital, Arnhem.
Marianne de Visser, MD, PhD
From the Department of Neurology (Drs. Hoogerwaard and de Visser), Academic Medical Centre, University of Amsterdam; and Department of Human and Clinical Genetics (Drs. Ginjaar and Bakker), Leiden University Medical Center, The Netherlands. Dr. Hoogerwaard is currently with the Department of Neurology, Rijnstate Hospital, Arnhem.

Notes

Address correspondence and reprint requests to Dr. Edo M. Hoogerwaard, Rijnstate Hospital, PO Box 9555, 6800 TA Arnhem, The Netherlands; e-mail: [email protected]

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