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Philosophy of biology / Collagen / type VI / alpha 1 / Collagen VI / Collagen / Congenital muscular dystrophy / Mutation / COL6A2 / Compound heterozygosity / COL6A3 / Genetics / Biology / Integrins


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Facility

University of Newcastle / Institute of Human Genetics / N terminus / /

IndustryTerm

magnetic resonance imaging / mother mosaic carrier / frequent / father carrier / fibrillar collagen networks / filamentous network / carrier conundrum / online article / mother carrier / microfibrillar network / metal ion dependent adhesion site motif / /

MedicalCondition

scar / muscular dystrophy / mild proximal myopathy / transient kyphotic deformity / long finger flexion contractures / muscle weakness / CMD / flexion contractures / collagen disorders / mild disorder / muscular atrophy / autosomal dominant limb girdle muscular dystrophy / proximal joint contractures / scoliosis / myopathies / ULLRICH CONGENITAL MUSCULAR DYSTROPHY UCMD / BETHLEM MYOPATHY Bethlem myopathy / significant muscle weakness / Warburg syndrome / necrosis / congenital myopathies / spinal muscular atrophy / Respiratory failure / disease / Danlos syndrome / autosomal recessive condition causing severe muscle weakness / VI related disorders / distal joint contractures / variable proximal contractures / dominantly inherited disorder / Marfan syndrome / torticollis / Bethlem myopathy / muscular dystrophies / marked long finger flexion contractures / neonatal hypotonia / congenital muscular dystrophy / fatty tissue / Deficiency / contractures / keloid / disorders / autosomal recessive disease / /

Organization

Institute of Human Genetics / University of Newcastle / International Centre for Life / Genomic / Equimolar / /

Person

Anne Lampe / /

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Position

Walker / /

Product

glycine / /

Technology

antibodies / ultrasound / MRI / magnetic resonance imaging / genotype / also been observed using muscle ultrasound / /

URL

http /

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