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Multicore disease

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Clinical Trials

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Displaying 1-2 of 2 results.
Molecular and Genetic Studies of Congenital Myopathies
Status: Recruiting
Last Changed: Mar 22, 2018
First Received: Jan 09, 2006
Disease(s): Central Core Disease, Centronuclear Myopathy, Congenital Fiber Type Disproportion, Multiminicore Disease, Myotubular Myopathy, Nemaline Myopathy, Rigid Spine Muscular Dystrophy, Undefined Congenital Myopathy
Locations: Genetics Division, Boston Children's Hospital, Boston, Massachusetts, United States
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
Status: Recruiting
Last Changed: May 09, 2017
First Received: Jul 27, 2011
Disease(s): Congenital Muscular Dystrophy (Including Unspecified/Undiagnosed), Dystroglycanopathy, Congenital Fiber Type Disproportion, Rigid Spine Muscular Dystrophy, Congenital Myopathy (Including Unspecified/Undiagnosed), Collagen VI CMD (Ullrich CMD, Intermediate, Bethlem Myopathy), Laminin Alpha 2 Related Congenital Muscular Dystrophy, LAMA2-CMD/Merosin Deficient/MDC1A, Walker-Warburg Syndrome, Muscle-Eye-Brain Disease, Fukuyama/Fukutin Related Muscular Dystrophy, Integrin Alpha 7 Deficiency, Integrin Alpha 9 Deficiency, LMNA-CMD/Lamin A/C/Laminopathy, SEPN1-Related Myopathy, Bethlem Myopathy, Actin Aggregation Myopathy, Cap Disease, Central Core Disease, Centronuclear Myopathy, Core Rod Myopathy, Hyaline Body Myopathy, Multiminicore Myopathy, Myotubular Myopathy, Nemaline Myopathy, Tubular Aggregate Myopathy, Zebra Body Myopathy, Reducing Body Myopathy, Spheroid Body Myopathy, LGMD1B (LMNA), LGMD1E (DES), LGMD2G (TCAP), LGMD2H (TRIM32), LGMD2I (FKRP), LGMD2J (TTN), LGMD2K (POMT1), LGMD2M (FKTN), LGMD2N (POMT2), LGMD2O (POMGnT1), LGMD2P (DAG1), LGMD2Q (PLEC1), LGMD2R (DES), LGMD2S (TRAPPC11), LGMD2T (GMPPB), LGMD2U (ISPD), LGMD2V (GAA), Ullrich Congenital Muscular Dystrophy, Titinopathy, Choline Kinase B Receptor, Emery-Dreifuss Muscular Dystrophy, RYR1 Related Myopathy, SYNE1/Nesprin Related Muscular Dystrophy, Telethonin Related Muscular Dystrophy (TCAP/Titin-Cap), Congenital Myasthenic Syndrome, Escobar Syndrome, Myofibrillar Myopathy, Malignant Hyperthermia, Alpha-Dystroglycan Related Muscular Dystrophy (DAG1, DPM1, DPM2, DPM3, FKRP, FKTN), Alpha-Dystroglycan Related Muscular Dystrophy (GAA, ISPD, LARGE, POMT1, POMT2, POMGnT1), Alpha-Dystroglycan Related Muscular Dystrophy (Unspecified/Undiagnosed/Other)
Locations: Congenital Muscle Disease International Registry (www.cmdir.org), Torrance, California, United States