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Muscular system / Central core disease / Centronuclear myopathy / Congenital myopathy / Rare diseases / Myopathy / Nemaline myopathy / RYR1 / Muscle biopsy / Health / Anatomy / Medicine


CHAPTER 15 Congenital myopathies Introduction The congenital myopathies are a clinically, genetically and pathologically heterogeneous group of muscle disorders defined by the presence of particular histopathological fea
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Company

Sarcotubular / /

IndustryTerm

myosin heavy chain / gene products / magnetic resonance imaging / imaging / /

MedicalCondition

nemaline myopathy / Additional rare disorders / primary myopathies / muscular dystrophy / Necrosis / congenital myopathies / spinal muscular atrophy / central core disease / several congenital myopathies / myopathy / particular disorder / multiminicore disease / hypotonia and developmental delay / contraction / Arthrogryposis / Skeletal α-actin Congenital myopathies Disorders / Molecular genetics Central core disease / Muscle weakness / myotubular and centronuclear myopathies / joint laxity / absent and congenital myopathies / myotubular myopathy / spheroid body myopathy Fingerprint body myopathy† Lamellar body myopathy Myopathy / relatively well defined disorders / muscle disorders / locus Disorders / excess Reducing body myopathy† Trilaminar fibre myopathy Tubular aggregate myopathy / common congenital myopathies / multi-minicore disease / respiratory insufficiency / hypotonia / body myopathy AD / Contractures / congenital non-progressive myopathy / Clinical features In addition to hypotonia / scoliosis / overall muscle weakness / disorders / Fibrosis / Lordosis / /

Person

Gene Gene / /

Position

pathologist / /

Product

adenosine / /

RadioStation

AM 415 / AM 411 / AM 413 / /

Technology

magnetic resonance imaging / Antibodies / Ultrasound / MRI / /

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