Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule-Reference-Cited by-同舟云学术

Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule

Published:2006 Issue:2 Volume:34 Page:135-144
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Aartsma-Rus Annemieke,Van Deutekom Judith C. T.,Fokkema Ivo F.,Van Ommen Gert-Jan B.,Den Dunnen Johan T.

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Reference61 articles.

1. The structural and functional diversity of dystrophin

2. Clinical-molecular correlation in 104 mild X-linked muscular dystrophy patients: Characterization of sub-clinical phenotypes

3. A severe muscular dystrophy patient with an internally deleted very short (110 kD) Dystrophin: Presence of the binding site for dystrophin-associated glycoprotein (DAG) may not be enough for physiological function of dystrophin

4. Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy

5. Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies

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