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Download International LGMD Patient Registries - LGMD-Info
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International Registries LGMD Patient International LGMD Patient Registries Have you &/or a family member received genetic confirmation of your Limb Girdle Muscular Dystrophy (LGMD) sub-type? If so, please be sure to have your name and information entered in the PATIENT REGISTRY for that diagnosis. When you register, you may have access to the following services, depending on the registry: General information about your disease Help finding appropriate experts (both scientific and clinical) in your country or area Information about ongoing or upcoming clinical trials relevant to your disease A source of knowledge about treatment options that are under development PATIENT REGISTRY PER CONFIRMED DIAGNOSIS: LGMD1B – caused by mutations in the LMNA gene Go to: www.cmdir.org LGMD2A – caused by mutations in the CAPN3 gene Go to: http://lgmd2a.org/registry LGMD2B/Miyoshi Myopathy – caused by mutations in the DYSF gene Send your name, contact information, and copy of genetic report (if possible) via e-mail to: [email protected] LGMD2C – caused by mutations in the gamma sarcoglycan (SGCG) gene Go to: www.kurtpeterfoundation.org/patient_registry LGMD2D – caused by mutations in the alpha sarcoglycan (SGCA) gene Go to: lgmd2d.org/patient-resources – patientregistry-form/patient-registration-form LGMD2G – caused by mutations in the TCAP gene Go to: www.cmdir.org LGMD2I – caused by mutations in the FKRP gene Go to: www.fkrp-registry.org LGMD2J/Tibal Myopathy – caused by mutations in the TTN gene Go to: www.mtmcnmregistry.org LGMD2K – caused by mutations in the POMT1 gene Go to: www.cmdir.org LGMD2M – caused by mutations in the FKTN gene Go to: www.cmdir.org LGMD2N – caused by mutations in the POMT2 gene Go to: www.cmdir.org LGMD2O – caused by mutations in the POMGnT1 gene Go to: www.cmdir.org Bethlem – caused by mutations in either the COL6A1, COL6A2, or COL6A3 genes Go to: www.cmdir.org EDMD – caused by mutations in either the EMD, FHL1, SYNE1, SYNE2 or LMNA genes Go to: www.cmdir.org ISPD – caused by mutations in the ISPD gene Go to: www.cmdir.org Duchenne or Becker Muscular dystrophy – caused by mutations in the DMD gene Go to: www.treat_nmd.eu/resources/patient-registries/list /DMD-BMD FSHD –caused by mutations in the SMCHDI gene or contraction of the D4Z4 region on chromosome 4 Go to: www.treat_nmd.eu/resources/patient-registries/list /fshd Hereditary Inclusion Body myositis (HIBM) – caused by mutations in GNE gene Go to: www.treat_nmd.eu/resources/patient-registries/list /gne-hibm Pompe – caused by mutations in GAA gene Go to: www.registrynxt.com/Pompe/Pages/Home.aspx