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Myotonic dystrophy / Medicine / Health / Biology


EMQN Best Practice Guidelines and Recommendations on Myotonic Dystrophy types 1 and 2 EMQN Best Practice Meeting, 31 October 2008, Nijmegen, The Netherlands Erik-Jan Kamsteeg1, Wolfram Kress2, Claudio Catalli3, Jens M. H
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Document Date: 2010-09-03 06:46:25

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City

Innsbruck / Würzburg / Nijmegen / Aarhus / Copenhagen / /

Company

BP / /

Country

Germany / Austria / Netherlands / Italy / Denmark / /

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Facility

Neuromuscular Centre / Tor Vergata University / Aarhus University Hospital / Institute of Human Genetics / Radboud University Nijmegen Medical Centre / University Hospital Rigshospitalet / University of Würzburg / /

IndustryTerm

care for this multisystem disease / diagnostic molecular genetics services / mRNA splicing machinery / /

MedicalCondition

myotonia / muscular dystrophy / Mental retardation / genetically heterogeneous disorder / cataracts / disease / multisystem disorders / cardiac failure / Myotonic Dystrophy / Ricker syndrome / proximal myotonic myopathy / clinical myotonia / myotonic dystrophies / muscle weakness / muscle pain / joint contractures / multisystem disease / Polyhydramnios / pain / fatigue / Abstract Myotonic dystrophy / Steinert disease / severe respiratory distress / multisystem disorder / disorder / premature cataracts / DM1 myotonic dystrophy / atrial tachyarrhythmia / baldness / late-onset myopathy / cataract / predominantly proximal muscle weakness / respiratory distress / /

Organization

Institute of Human Genetics / Department of Biopathology and Diagnostic / University of Würzburg / Department of Medical Genetics / Molecular and Clinical Pharmakology Medical University Innsbruck / Tor Vergata University / Rome / Department of Human Genetics Internal / Aarhus University Hospital / Radboud University Nijmegen Medical Centre / /

Person

H. Scheffer / /

Position

Harper / /

Technology

electrophoresis / diagnostic tests / genotype / /

SocialTag