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1,515 Possible Causes for Dreifuss, Dystrophy,, Emery, Muscular

Did you mean: Dreifuss, Dystrophy, emend, Muscular

  • Emery-Dreifuss Muscular Dystrophy

    Dreifuss and Hogan, and in 1966 again Emery and Dreifuss, studied a Virginia kindred in which there were 8 affected males in 3 generations in a typical X-linked pedigree pattern[whonamedit.com] Emery-Dreifuss Muscular Dystrophy. 2004 Sep 29 [updated 2015 Nov 25].[ghr.nlm.nih.gov] muscular dystrophy muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle EDMD Statements Identifiers Sitelinks Wikipedia[wikidata.org] Abstract Emery-Dreifuss muscular dystrophy (EDMD) and limb-girdle muscular dystrophy type 1B (LGMD1B) are characterized by cardiac dysrhythmias, late-onset cardiomyopathy,[ncbi.nlm.nih.gov]

  • Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2

    Svenska synonymer Emery-Dreifuss muskeldystrofi — Emery-Dreifuss syndrom Engelska synonymer Muscular Dystrophy, Emery Dreifuss — Emery-Dreifuss Syndrome — Emery Dreifuss Syndrome[mesh.kib.ki.se] […] mild muscular symptoms.[physio-pedia.com] Emery-Dreifuss Muscular Dystrophy. 2004 Sep 29 [updated 2015 Nov 25].[ghr.nlm.nih.gov] Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

    Dystrophies, Limb-Girdle/genetics Muscular Dystrophies, Limb-Girdle/pathology* Muscular Dystrophies, Limb-Girdle/physiopathology Muscular Dystrophy, Emery-Dreifuss/genetics[ncbi.nlm.nih.gov] Electron microscopy study of muscle biopsies from patients with autosomal-dominant Emery-Dreifuss muscular dystrophy revealed nuclear alterations in about 10% of the preserved[ncbi.nlm.nih.gov] […] syndrome, X-linked Emery-Dreifuss muscular dystrophy, and autosomal dominant Emery-Dreifuss muscular dystrophy.[medlink.com] […] mild muscular symptoms.[physio-pedia.com]

  • Emery-Dreifuss Muscular Dystrophy Type 1

    What is Emery-Dreifuss muscular dystrophy?[mda.org] Emery-Dreifuss muscular dystrophy is characterized by a classic triad of symptoms.[mda.org.au] Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet. 1994;8:323–7.[link.springer.com] JAGO , Emery‐Dreifuss muscular dystrophy , Anaesthesia , 46 , 1 , (33-35) , (2007) . Martin G. Bialer, Nancy L. Mcdaniel and Thaddeus E.[doi.org]

  • Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

    The Handbook of Clinical Neurology Vol 101: Muscular Dystrophies discusses the pathogenesis and treatment prospects for muscular dystrophies.[books.google.de] Definition A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system,[uniprot.org] Author information 1 Department of Clinical Neurosciences, Faculty of Medicine, University of Calgary, Canada. [email protected] Abstract Autosomal recessive Emery Dreifuss[ncbi.nlm.nih.gov] Back to: « Emery-Dreifuss muscular dystrophy Symptoms List: Emery-Dreifuss muscular dystrophy type 3, autosomal recessive Symptoms and clinical features may include: 2 Clinical[familydiagnosis.com]

  • Muscular Dystrophy

    Muscular dystrophies at Curlie[en.wikipedia.org] Emery AE. Emery-Dreifuss muscular dystrophy - a 40 year retrospective. Neuromuscul Disord. 2000 Jun;10(4-5):228-32. Review.[web.archive.org] Muscular dystrophy (MD) is of different types.[symptoma.com] Emery AE. Emery-Dreifuss muscular dystrophy - a 40 year retrospective. Neuromuscul Disord. 2000 Jun;10(4-5):228-32. Review. Madej-Pilarczyk A, Kochański A.[ghr.nlm.nih.gov]

  • Congenital Muscular Dystrophy due to LMNA Mutation

    Lamin A/C congenital muscular dystrophy (CMD) (L-CMD, congenital muscular dystrophy associated to the LMNA gene or Emery-Dreifuss muscular dystrophy II) is a disease that[en.wikipedia.org] Mutations in the nuclear intermediate filament lamin A/C (LMNA) gene are associated with Emery-Dreifuss muscular dystrophy, but cause the disease by unknown mechanisms.[news-medical.net] [Clinical, genealogical and molecular genetic study of Emery-Dreifuss muscular dystrophy].[uniprot.org] Entry H00590 Disease Name Congenital muscular dystrophies (CMD/MDC) Subgroup Collagen VI related myopathies [DS: H01341 ] Merosin-deficient CMD (MDC1A) [DS: H01958 ] Muscular[genome.jp]

  • Neurogenic Scapuloperoneal Syndrome Type Kaeser

    The Handbook of Clinical Neurology Vol 101: Muscular Dystrophies discusses the pathogenesis and treatment prospects for muscular dystrophies.[books.google.de] Therefore, the term Emery-Dreifuss muscular dystrophy should be avoided.[link.springer.com] […] spinal muscular atrophy.[semanticscholar.org] Mutations in the fukutin-related protein gene ( FKRP ) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C .[nature.com]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1B

    Autosomal dominant Emery-Dreifuss muscular dystrophy Atypical Werner syndrome Autosomal codominant severe lipodystrophic laminopathy Autosomal recessive Emery-Dreifuss muscular[csbg.cnb.csic.es] […] types of limb-girdle muscular dystrophy.[rarediseases.info.nih.gov] Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat. Genet. ‏[books.google.com] LGMD1B is caused by variants in the LMNA gene, and there is considerable phenotypic overlap with the laminopathies, dilated cardiomyopathy and the autosomal dominant form of Emery-Dreyfus[exeterlaboratory.com]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2K

    Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. Eur J Hum Genet. 2012;20:1234–9.[link.springer.com] […] muscular dystrophy, X-linked , type 1 - (XR) 1.2 * Emery-dreifuss muscular dystrophy 1 - EDMD1 Emery-Dreifuss muscular dystrophy, X-linked , type 2 - (XR) 1.3 Four and a[195.83.227.65] […] muscular dystrophy Autosomal dominant limb-girdle muscular dystrophy type 1B Autosomal dominant nonsyndromic sensorineural deafness type DFNA Autosomal recessive Emery-Dreifuss[csbg.cnb.csic.es] [updated Mar. 2017 by FlyBase; FBrf0222196 ] Disease Summary Information Parent Disease Summary: muscular dystrophy, limb-girdle Symptoms and phenotype Limb-girdle muscular[flybase.org]