Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials

Author:

Anthony Karen1,Cirak Sebahattin1,Torelli Silvia1,Tasca Giorgio2,Feng Lucy1,Arechavala-Gomeza Virginia1,Armaroli Annarita3,Guglieri Michela4,Straathof Chiara S.5,Verschuuren Jan J.5,Aartsma-Rus Annemieke6,Helderman-van den Enden Paula6,Bushby Katherine4,Straub Volker4,Sewry Caroline1,Ferlini Alessandra3,Ricci Enzo7,Morgan Jennifer E.1,Muntoni Francesco1

Affiliation:

1. 1 The Dubowitz Neuromuscular Centre, UCL, Institute of Child Health, London WC1N 1EH, UK

2. 2 Don Carlo Gnocchi Onlus Foundation, 20148, Italy

3. 3 Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara 44100 Italy

4. 4 Institute of Genetic Medicine, Newcastle University, Newcastle NE1 3BZ, UK

5. 5 Department of Neurology, Leiden University Medical Centre, 2300 RC Leiden, The Netherlands

6. 6 Department of Human Genetics, Leiden University Medical Centre, 2300 RC Leiden, The Netherlands

7. 7 Institute of Neurology, Catholic University, Rome 00168, Italy

Funder

Wellcome Trust

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Reference54 articles.

1. Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations;Aartsma-Rus;Hum Mutat,2009

2. Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies;Abbs;Neuromuscul Disord,2010

3. Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression;Arechavala-Gomeza;Neuropathol Appl Neurobiol,2010

4. Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials;Arechavala-Gomeza;Neuromuscul Disord,2010

5. Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies;Beggs;Am J Hum Genet,1991

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