| Document Date: 2013-09-26 19:23:00
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City Seattle / Naarden / New York / Chicago / / Company McGraw-Hill / Engel AG / Emery AE / CUSTOMIZED DIAGNOSTICS / / Country Netherlands / / Currency USD / / / Facility University of Chicago Genetic Services Laboratories / University of Washington / / / IndustryTerm bioinformatic tools / / MedicalCondition nemaline myopathy / Distal muscle weakness / rigid spine syndrome / weeks Congenital Myopathy / central core disease / Congenital Myopathies/Muscular Dystrophies Congenital Myopathies Congenital myopathies / heterogeneous inherited disorders / myopathy / X-linked myotubular and centronuclear myopathies / muscle syndrome / muscle weakness Contractures / Myopathy Core Myopathy / Dubowitz V. Rigid spine syndrome / muscle weakness / Congenital Myopathy / CMD / syncope / fibrotic changes Possible diagnosis Nemaline Myopathy / contracture / slowly progressive muscle weakness / core myopathy / scoliosis / proximal muscle weakness / congestive heart failure / necrosis / Congenital myopathies / presyncope / ophthalmoparesis / disease / centronuclear myopathy / Rigid Spine Muscular Dystrophy Rigid Spine syndrome / extraocular muscle weakness / multiminicore disease / COL6A1 COL6A2 COL6A3 Congenital Myopathies / Tome F. Congenital Myopathies / Congenital Myasthenic syndromes / Nemaline Myopathy Nemaline Myopathy / joint contractures / congenital hypotonia / rare muscle disease / related disorders / muscular dystrophies / Prominent Contractures EMD MYH7 FHL1 RYR1 LMNA SEPN1 SYNE1 SYNE2 TMEM43 Congenital Myopathy / hypotonia / Congenital muscular dystrophy / congenital myopathies/muscular dystrophies / often early Spinal rigidity Cardiomyopathy / Emery-Dreifuss muscular dystrophy / early contractures / congenital muscular dystrophies / inflammatory / fibrosis / disorders / / MedicalTreatment molecular therapeutic / / Organization University of Washington / University of Chicago Genetic Services Laboratories / The University of Chicago / / Person Ben Yaou / Ryan M. Nemaline / / / ProvinceOrState Illinois / / Technology Testing algorithm / using Illumina technology / /
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