{"orpha":719921,"name":"Congenital myasthenic syndrome due to defective structural molecule at the neuromuscular junction","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CMS due to defective structural molecule at the neuromuscular junction"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-719921/","orphanet_url":"https://www.orpha.net/en/disease/detail/719921","names":{"fr":{"name":"Syndrome myasthénique congénital dû à une molécule structurelle défectueuse au niveau de la jonction neuromusculaire","synonyms":["SMC dû à une molécule structurelle défectueuse au niveau de la jonction neuromusculaire"]},"de":{"name":"Kongenitales myasthenes Syndrom durch defektes Strukturmolekül an der neuromuskulären Endplatte"},"es":{"name":"Síndrome miasténico congénito por defecto molecular en la estructura de la unión neuromuscular","synonyms":["SMC por defecto molecular en la estructura de la unión neuromuscular"]},"it":{"name":"Sindrome miastenica congenita da difetto della molecola strutturale a livello della giunzione neuromuscolare","synonyms":["CMS da difetto della molecola strutturale a livello della giunzione neuromuscolare"]},"nl":{"name":"Congenitaal myastheen syndroom door defect van structureel molecule aan de neuromusculaire overgang","synonyms":["CMS door defect van structureel molecule aan de neuromusculaire overgang"]},"pt":{"name":"Congenital myasthenic syndrome due to defective structural molecule at the neuromuscular junction"},"pl":{"name":"Congenital myasthenic syndrome due to defective structural molecule at the neuromuscular junction","synonyms":["CMS due to defective structural molecule at the neuromuscular junction"]},"cs":{"name":"Congenital myasthenic syndrome due to defective structural molecule at the neuromuscular junction","synonyms":["CMS due to defective structural molecule at the neuromuscular junction"]}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98914,"name":"Presynaptic congenital myasthenic syndrome","classifications":[147,156,181,189]}],"children":[],"genes":[{"symbol":"DES","name":"desmin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"37721175[PMID]","hgnc":"2770","ensembl":"ENSG00000175084","omim":"125660","loci":["2q35"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}