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Medical genetics / Collagen VI / Congenital muscular dystrophy / COL6A2 / Collagen /  type VI /  alpha 1 / Ullrich congenital muscular dystrophy / Fukuyama congenital muscular dystrophy / Centronuclear myopathy / Collagen / Muscular dystrophy / Health / Genetic genealogy


Brain Advance Access published June 7, 2006 doi:[removed]brain/awl146 Brain[removed]Page 1 of 8 A new form of congenital muscular dystrophy with
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Document Date: 2010-05-05 13:28:40


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City

Naarden / Charlottesville / Montreal / Reykjavik / Toronto / Foster City / /

Company

Hybridoma Bank / Ugur SA / Oxford University Press / Cambrex / Carrefour / Technelysium Pty Ltd / Suzuki / Jackson Immunoresearch Laboratories / /

Country

Netherlands / United States / Iceland / Canada / Australia / /

Currency

pence / /

/

Facility

University of Iowa / Genome Quebec Innovation Center / Sainte-Justine Hospital / Neuromuscular Clinic / McGill University / /

IndustryTerm

car accident / carrier chromosomes / carrier chromosome / /

MedicalCondition

toe contractures / muscular weakness / important contractures / muscular dystrophy / rigid spine syndrome / patients present muscle weakness / Canadian regional founder effect diseases / Ullrich disease / Ankle contractures / novel autosomal recessive congenital muscular dystrophy / congenital myopathy / CMD / previously operated scoliosis / hypotonia / hip dislocation / VI related muscle disorders / novel recessive congenital muscular dystrophy / slowly progressive muscle weakness / usual abnormal pulmonary function / disorder / Ullrich syndrome / estimated disease / frequent scoliosis / Scoliosis / ataxia / mental retardation / Distal laxity Contractures CNS / respiratory failure / disease / hyaline body myopathy / severe proximal contractures / Bethlem myopathies / pulmonary function / brain diseases / Muntoni F. Congenital muscular dystrophy / Longman C. Congenital muscular dystrophy / milder autosomal dominant Bethlem myopathy / proximal contractures / autosomal recessive hyaline body myopathy / partial deficiency / Joint laxity / skin abnormality / joint contractures / congenital hypotonia / certain recessive disorders / Marfan syndrome / torticollis / Bethlem myopathy / distal joint laxity / diseases / muscular dystrophies / atypical centronuclear myopathy / connective tissue disorders / congenital muscular dystrophy / early respiratory failure / deficiency / contractures / Pulmonary vital capacity / predominant muscle weakness / disorders / /

OperatingSystem

L3 / /

Organization

Hospital for Sick Children / Sainte-Justine Hospital in Montreal / Muscular Dystrophy Association / Muscular Dystrophy Association of Canada / McGill University / Universite´ / Centre de re´adaptation Marie-Enfant / Genome Quebec Innovation Center / Marie-Enfant Rehabilitation Center / University of Iowa / Oxford University / Ethics Committee / /

Person

Michael Sinnreich / Ann Neurol / Vital Capacity / Nadine Leclerc / Elsa Rossignol / Drs George Karpati / Case / Johanne Be´gin / George Karpati / Carmen Tremblay / Francine Lachance / Bernard Brais / /

Position

RT / Carpenter / Author / Morita MP / Oliveira AS / Te´treault et al. Carpenter / Freitas RT / /

ProvinceOrState

Wisconsin / Quebec / Iowa / Ontario / /

PublishedMedium

la Recherche / /

RadioStation

Gagnon AM / Laberge AM / /

Technology

alpha / antibodies / genotyping / single nucleotide polymorphism / http / SNP / /

URL

www.gdb.org / http /

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