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Collagen VI / Collagens / Collagen / type VI / alpha 1 / COL6A2 / Syndromes / Genetics / Congenital muscular dystrophy / Collagen / Limb-girdle muscular dystrophy / Muscular dystrophy / Health / Biology


ORIGINAL ARTICLE Early Onset Collagen VI Myopathies: Genetic and Clinical Correlations Laura Brin˜as, PhD,1,2 Pascale Richard, PhD,1,2,3 Susana Quijano-Roy, MD, PhD,1,2,4 Corine Gartioux, BS,1,2 Ce´line Ledeuil, BS,3
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Document Date: 2010-12-03 17:54:51

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Company

Roche Diagnostics / Proc Natl Acad Sci U S A / McGraw-Hill / N 11595 / Nikon / Engel AG / HBO / Roper / HP / Myopathies Grants N 13576 / /

Country

Switzerland / Netherlands / France / Japan / Portugal / Germany / Italy / Algeria / Belgium / Turkey / Madagascar / Argentina / Spain / /

Currency

franc / /

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Facility

University Hospital Vaudois / Raymond Poincare´ Hospital / Necker-Enfants Malades Hospital / Ali Ait Idir Specialized Hospital / University Hospital Maastricht / 19University Hospital of Montpellier / Cle´menceau University Hospital / Neuromuscular Disease Center / Hospital Meixoeiro / Paris XII University / Bretonneau University Hospital / University Hospital / U841 Mondor Biomedical Research Institute / Gui de Chauliac Hospital / Hospital Group / Armand Trousseau Hospital / Rizzoli Orthopedic Institute / Garrahan National Pediatric Hospital / Hacettepe Children’s Hospital / Myology Institute / V.A. UPMC University / University of Ferrara / University of Paris / Vigo University Hospital / /

IndustryTerm

online version / donor site / helpful tool / /

MedicalCondition

VI Myopathies / axial orthopedic deformities / congenital atonic-sclerotic muscular dystrophy / autosomal dominant disease / CMD / Ullrich’s disease / classic Bethlem myopathy / VI related muscle disorders / hypertrophic scars / deformity / Onset ColVI Myopathies / scoliosis / recessive Bethlem myopathy / Benign myopathy / scleroatonic muscular dystrophy / early onset ColVI myopathies / proximal deformities / VI deficiency / torticollis / Bethlem myopathy / kyphosis / hypotonia / Onset ColVI Myopathies TABLE / contractures / yr Contractures / Collagen type VI-Related Myopathies / disorders / lordosis / deformities / neuromuscular disorders / muscular weakness / autosomal recessive myosclerosis myopathy / muscular dystrophy / early onset ColVI myopathy / ColVI myopathies / Ullrich disease / muscle weakness / complete secretion deficiency / Neurology contractures / VI disorder / dominant limb-girdle muscular dystrophy / Spinal deformities / autosomal recessive disorder / proximal joint contractures / common congenital muscular dystrophy / ColVI myopathy / disease / joint contractures / congenital muscular dystrophy / /

MedicalTreatment

counselling / /

OperatingSystem

ECOS / /

Organization

Hacettepe Children’s Hospital / Necker-Enfants Malades Hospital / 13Genetics Division / 26Neurology Division / Institut de Myologie / Institut National / 2UPMC University of Paris / Armand Trousseau Hospital / Metabolic Biochemistry Division / University of Ferrara / International Congress / Salpeˆtrie`re Hospital Group / Cardiogenetics and Myogenetics Functional Unit / Department of Neuropediatrics / Raymond Poincare´ Hospital / Ali Ait Idir Specialized Hospital / Neuropediatry Division / U841 Mondor Biomedical Research Institute / Rizzoli Orthopedic Institute / Neuromuscular Disease Reference Center / Vigo University Hospital / University Hospital / 8Neuromuscular Disease Reference Center / Strasbourg University / Department of Pediatrics / Department of Neurology / 6Paris-Est Neuromuscular Disease Referal Centre / Garrahan National Pediatric Hospital / Association Institut / 21Medical Genetics Division / 9Neuropediatry Division / Institute for Neurological Research / National Center for Biotechnology Information / Neurology Division / Neuromuscular Disease Center / Pediatric Division / 5Neurology Division / World Muscle Society / Cle´menceau University Hospital / Myology Institute / Bretonneau University Hospital / 19University Hospital of Montpellier / 18Nerve-Muscle Unit / /

Person

ANN NEUROL / Norma B. Romero / Bernard Echenne / Laura Brin˜as / Louis Viollet / Fabiana Lubieniecki / Haluk Topaloglu / Christine Tranchant / Annick Toutain / Tanya Stojkovic / Murielle Dunand / Denys Chaigne / Soledad Monges / Ghislaine Plessis / Brigitte Estournet / Carmen Navarro / Van Wijngaarden / Kim Maincent / Bruno Eymard / Isabelle Desguerre / Filip Roelens / Allamand / /

Position

calibrator / representative / /

Product

rela / glycine / PCR / /

Technology

electrophoresis system / Gene Expression / genotype / Gui / alpha / antibodies / Biotechnology / /

URL

http /

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