Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Facioscapulohumeral_muscular_dystrophy> ?p ?o }
- Facioscapulohumeral_muscular_dystrophy abstract "Facioscapulohumeral muscular dystrophy (FSHMD, FSHD or FSH), which was originally named Landouzy-Dejerine, is a usually autosomal dominant inherited form of muscular dystrophy (MD) that initially affects the skeletal muscles of the face (facio), scapula (scapulo) and upper arms (humeral). FSHD is widely stated to be the third most common genetic disease of skeletal muscle; Orpha.net lists the prevalence as 4/100,000 while a 2014 population-based study in the Netherlands reported a significantly higher prevalence of 12 in 100,000.Symptoms may develop in early childhood and are usually noticeable in the teenage years with 95% of affected individuals manifesting disease by age 20 years. A progressive skeletal muscle weakness usually develops in other areas of the body as well; often the weakness is asymmetrical. Life expectancy can be threatened by respiratory insufficiency and up to 20% of affected individuals become severely disabled requiring use of a wheel chair or mobility scooter. In a Dutch study approximately 1% of patients required (nocturnal or diurnal) ventilatory support. Non-muscular symptoms frequently associated with FSHD include subclinical sensorineural hearing loss and retinal telangiectasia.In more than 95% of known cases, the disease is associated with contraction of the D4Z4 repeat in the 4q35 subtelomeric region of Chromosome 4. Seminal research published in August 2010 now shows that a second mechanism is needed for FSHD, which for the first time provides a unifying theory for the underlying genetics of FSHD. The second mechanism was found to be a "toxic gain of function" of the DUX4 gene which is the first time in the history of genetic research that a "dead gene" has been found to "wake up" and cause disease.Building on the 2010 unified theory of FSHD, researchers in 2014 published the first proposed pathophysiology definition of the disease and four viable therapeutic targets for possible intervention points.".
- Facioscapulohumeral_muscular_dystrophy icd10 "G71.0".
- Facioscapulohumeral_muscular_dystrophy icd9 "359.1".
- Facioscapulohumeral_muscular_dystrophy meshId "D020391".
- Facioscapulohumeral_muscular_dystrophy omim "158900".
- Facioscapulohumeral_muscular_dystrophy thumbnail FSHD_genetics_and_epigenetics.png?width=300.
- Facioscapulohumeral_muscular_dystrophy wikiPageExternalLink results?term=fshd&cond=%22Muscular+Dystrophy%2C+Facioscapulohumeral%22.
- Facioscapulohumeral_muscular_dystrophy wikiPageExternalLink fshdchampions.org.
- Facioscapulohumeral_muscular_dystrophy wikiPageExternalLink fshsociety.org.
- Facioscapulohumeral_muscular_dystrophy wikiPageExternalLink pe-eom.html.
- Facioscapulohumeral_muscular_dystrophy wikiPageExternalLink not-one-two-dna-changes-are-needed-cause-fshd.
- Facioscapulohumeral_muscular_dystrophy wikiPageExternalLink 57.
- Facioscapulohumeral_muscular_dystrophy wikiPageExternalLink www.fshd-europe.org.
- Facioscapulohumeral_muscular_dystrophy wikiPageExternalLink www.fshd-group.eu.
- Facioscapulohumeral_muscular_dystrophy wikiPageExternalLink www.fshdglobal.org.
- Facioscapulohumeral_muscular_dystrophy wikiPageExternalLink www.fshfriends.org.
- Facioscapulohumeral_muscular_dystrophy wikiPageExternalLink www.fshsociety.org.
- Facioscapulohumeral_muscular_dystrophy wikiPageExternalLink resMilestones.html.
- Facioscapulohumeral_muscular_dystrophy wikiPageExternalLink early-flaw-brings-on-muscular-dystrophy.
- Facioscapulohumeral_muscular_dystrophy wikiPageExternalLink www.mda.org.
- Facioscapulohumeral_muscular_dystrophy wikiPageExternalLink www.mdahellas.gr.
- Facioscapulohumeral_muscular_dystrophy wikiPageExternalLink 060106myostatin_blocker.html.
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- Facioscapulohumeral_muscular_dystrophy wikiPageExternalLink science.1189044.
- Facioscapulohumeral_muscular_dystrophy wikiPageExternalLink fields-center.
- Facioscapulohumeral_muscular_dystrophy wikiPageExternalLink nihregistry.
- Facioscapulohumeral_muscular_dystrophy wikiPageID "2570824".
- Facioscapulohumeral_muscular_dystrophy wikiPageLength "52719".
- Facioscapulohumeral_muscular_dystrophy wikiPageOutDegree "97".
- Facioscapulohumeral_muscular_dystrophy wikiPageRevisionID "681307556".
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink ACVR2B.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink ANT1_gene.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Allele.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Antisense.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Antisense_RNA.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Athena_diagnostics.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Autosomal_dominant.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Biochemical.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Biochemistry.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Category:Muscular_dystrophy.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Category:Rare_diseases.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Centromere.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Chromosomal_translocation.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Chromosome_10_(human).
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Chromosome_18.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Chromosome_18_(human).
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Chromosome_4_(human).
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink ClinicalTrials.gov.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Clinicaltrials.gov.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Creatine_kinase.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink DUX4.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink De_novo_mutation.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Dominance_(genetics).
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Duchenne_muscular_dystrophy.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Dystrophin.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink EcoR1.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink EcoRI.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Electromyogram.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Electromyography.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Enzyme.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Epigenetic.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Epigenetics.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Euchromatin.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink FRG1.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink FRG2.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Foot_drop.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Francis_Collins.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Francis_Collins_(geneticist).
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink French_Institute_of_Health_and_Medical_Research.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Genetic_disease.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Genetic_disorder.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Genetic_heterogeneity.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Genetically_modified_mouse.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Haplotype.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Heterochromatin.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Homeobox.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Human_Genome.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Human_genome.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Humeral.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Humerus.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Institut_National_de_la_Santé_et_de_la_Recherche_Médicale.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Intron.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Joseph_Dejerine.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Joseph_Jules_Dejerine.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Life_expectancy.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Locus_(genetics).
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Louis_Landouzy.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Louis_Théophile_Joseph_Landouzy.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink MYO-029.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Mendelian_inheritance.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Messenger_RNA.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Methylation.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Muscle.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Muscle_biopsy.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Muscular_dystrophy.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Mutation.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Myoblasts.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Myocyte.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink Myostatin.
- Facioscapulohumeral_muscular_dystrophy wikiPageWikiLink National_Institutes_of_Health.