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City Paris / Cochin / Baltimore / / Company LAMA2 / Locus / Meredith / AD CFL2 601443 ACTA1 102610 co / / Country France / Monaco / / Currency pence / BMD / / / Facility McKusick-Nathans Institute of Genetic Medicine / National Library of Medicine / Johns Hopkins University / / IndustryTerm laminin alpha2 chain / online version / Online Mendelian Inheritance / online site / Web URL / tance / online gene table / online gene table database / heavy chain / query tools / / MedicalCondition Nemaline myopathy / external ophtalmoplegia Multiminicore disease / Distal myopathies / Rigid spine syndrome / ryanodine receptor Central core disease / myopathy / ScienceDirect Neuromuscular Disorders / congenital muscular dystrophy Walker-Warburg syndrome Walker-Warburg syndrome / myopathy Desmin-related / Leiden Muscular Dystrophy / Hereditary motor / congenital myopathy / brain disease / MYOTONIC SYNDROMES Myotonic dystrophy / allelic disease / Walker-Warburg syndrome / Spinal muscular atrophies / Ullrich syndrome / monogenic neuromuscular disorders / ber Congenital myopathy / Brody disease / ber-type disproportion Myopathy / AR Bethlem myopathy / myopathies / Late onset distal myopathy / lethal myopathy Sarcotubular myopathy / AR Nemaline myopathy / Myofibrillar myopathy / integrin á7 Ullrich syndrome / Myotonia / body myopathy / Hereditary / cardiomyopathy / Hyaline body myopathy / minicore myopathy / pes cavus / classical form Hyaline body myopathy / transient multiminicore myopathy / multiminicore disease / Myotonic dystrophy / Episodic ataxia / Danon disease / Chloride channel Myotonia congenita / distal myopathy McNally / Myotubular myopathy / sphe roid body myopathy / responsive hereditary paroxysmal cerebellar ataxia Episodic / Hereditary paraplegias / Edström myopathy / Ion channel muscle diseases / Bethlem myopathy / Diseases / muscle disease / monogenic muscle diseases / early respiratory failure / recessive myopathy / PROMM / Paramyotonia congenita / Neuromuscular Disorders / muscular dystrophy / fatal cardiomyopathy / Schwartz-Jampel syndrome / nebulin Nemaline myopathy / Distal myopathy / titin Distal myopathy / dominant Rippling muscle disease / nebulin defect Distal myopathy / distal myopathy Distal myopathy / neuromuscular disease / recessive Cap disease / skeletal myopathy / selenoprotein N1 Ullrich syndrome / X-linked myopathy / postural muscle atrophy / recessive Central core disease / Pompe disease / CONGENITAL MYOPATHIES Nemaline myopathy / Congenital myopathies / periodic Paralysis / Centronuclear myopathy / disease / sarcotubular myopathy / jeanclaude.kaplan@inserm.fr Neuromuscular Disorders / 5q31 Myofibrillar myopathy / Epidermolysis bullosa simplex / Hereditary ataxias / proximal myotonic myopathy / Metabolic myopathies / Other myopathies / Congenital myasthenic syndromes / myosin storage myopathy / desmin-related myopathy / Episodic muscle weakness / spheroid body myopathy / Scapuloperoneal myopathy / arrhythmogenic right ventricular cardiomyopathy Myofibrillar myopathy / each disease / muscular dystrophy Hereditary myopathy / Hereditary cardiomyopathies / Muscular dystrophies / Facio-scapulohumeral muscular dystrophy / Emery-Dreifuss muscular dystrophy / 5q31 Spheroid body myopathy / Congenital muscular dystrophies / syndrome / / NaturalFeature Ion channel / / Organization HUGO Gene Nomenclature Committee / McKusick-Nathans Institute of Genetic Medicine / US Federal Reserve / Jean-Claude Kaplan Institut Cochin / NMD / Institut Universitaire de Recherche Clinique / Johns Hopkins University / National Center for Biotechnology Information / AR AD / / Person George Jr / Valérie Delague / Ichizo Nishino / Ana Ferreiro / Christel Depienne / Francesco Muntoni / Valero De Bernabe / Ben Othmane / Judith Melki / Van Reeuwijk / Kate Bushby / Louis Ptácˇek / Salvatore Di Mauro / Fontaine / Jane Miller / Dalil Hamroun / Anders Olfors / Christophe Béroud / Andy Engel / Pascale Guicheney / / Position General / curator / Corresponding author / / Product hypoKPP 170400 17q23 SCN4A 603967 7.5 / 19q13.1 RYR1 180901 / MPD1 160500 14q11.2 MYH7 160760 / Acetazolamide / 1q42.1 Nemaline / MHS1 180901 19q13.1 RYR1 180901 / RMD1 600332 RMD2 606072 3p25 CAV3 601253 / LGMD1D 603511 LGMD1E 602067 LGMD1F 608423 LGMD1G 609115 / DM1 160900 19q13 DMPK 605377 Renwick et al. / hypoKPP3 170400 11q13 KCNE3 604433 / MTM1 300415 DNM2 602378 / 10q22 LDB3 / 9p13 TPM2 190990 / hyperKPP 170500 17q23 SCN4A 603967 / ACTA1 102610 TPM2 190990 / NEM1 609284 1q21.2 TPM3 191030 / q24 5.17 AD FOP 135100 123320 ACVR1 102576 CAV3 601253 / 3p25 MYOT / MHS2 154275 MHS3 154276 MHS4 600467 MHS5 601887 / hypoKPP1 170400 1q31-q32 Acetazolamide / / Technology alpha / Biotechnology / / URL http / SocialTag 
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