Matches in SemOpenAlex for { <https://semopenalex.org/work/W2005526108> ?p ?o ?g. }
Showing items 1 to 71 of
71
with 100 items per page.
- W2005526108 endingPage "290" @default.
- W2005526108 startingPage "287" @default.
- W2005526108 abstract "El síndrome de Steinert o distrofia miotónica tipo I es la distrofia muscular más frecuente del adulto. Se trata de una enfermedad muscular autosómica dominante que presenta el fenómeno de anticipación. La anomalía molecular está causada por una expansión de repeticiones del trinucleótido que contiene citosina-timidina-guanosina en el gen DMPK (dystrophia miotónica proteincinasa) localizado en la región cromosómica 19q13.3. Presentamos el caso de un varón de 39 años con rasgos físicos característicos del síndrome de Steinert. Revisamos su historia natural y encontramos un origen congénito del mismo, llegamos hasta su bisabuela buscando el origen hereditario de su enfermedad. Dada la evolución del paciente, y debido a que se trata de una enfermedad con afectación multiorgánica, consideramos que los médicos de Atención Primaria deben desempeñar un papel clave en el control y seguimiento de los pacientes con síndrome de Steinert. Steinert's syndrome or myotonic dystrophy type I is the most frequent muscular dystrophy in the adult. It is an autosomal dominant muscular disease that exhibits the anticipation phenomenon. The molecular abnormality is caused by an expansion of a cytosine-thymine-guanine (CTG) trinucleotide repeats of the DMPK gene (Myotonic dystrophy protein kinase) located on chromosome 19q13.3. We present the case of a 39-year old man with typical clinical features of Steinert's disease. After reviewing his natural history, we found a congenital origin and of it, the hereditary origin of the disease going back to his great-grandmother. Because of the evolution of our patient and because Steinert's disease is a multi-organ disease, we consider that the family doctors should play a key role in the control and follow-up of patients with Steinert's disease." @default.
- W2005526108 created "2016-06-24" @default.
- W2005526108 creator A5030126797 @default.
- W2005526108 creator A5053093477 @default.
- W2005526108 creator A5058600309 @default.
- W2005526108 creator A5080653797 @default.
- W2005526108 date "2009-07-01" @default.
- W2005526108 modified "2023-09-30" @default.
- W2005526108 title "Una familia interesante" @default.
- W2005526108 cites W1530831071 @default.
- W2005526108 cites W1955360692 @default.
- W2005526108 cites W1992024665 @default.
- W2005526108 cites W1992746353 @default.
- W2005526108 cites W1994992045 @default.
- W2005526108 cites W2003766122 @default.
- W2005526108 cites W2003854316 @default.
- W2005526108 cites W2039737587 @default.
- W2005526108 cites W2049938499 @default.
- W2005526108 cites W2085181909 @default.
- W2005526108 cites W2112902279 @default.
- W2005526108 cites W4236942915 @default.
- W2005526108 doi "https://doi.org/10.1016/s1138-3593(09)71877-5" @default.
- W2005526108 hasPublicationYear "2009" @default.
- W2005526108 type Work @default.
- W2005526108 sameAs 2005526108 @default.
- W2005526108 citedByCount "3" @default.
- W2005526108 countsByYear W20055261082016 @default.
- W2005526108 countsByYear W20055261082020 @default.
- W2005526108 countsByYear W20055261082023 @default.
- W2005526108 crossrefType "journal-article" @default.
- W2005526108 hasAuthorship W2005526108A5030126797 @default.
- W2005526108 hasAuthorship W2005526108A5053093477 @default.
- W2005526108 hasAuthorship W2005526108A5058600309 @default.
- W2005526108 hasAuthorship W2005526108A5080653797 @default.
- W2005526108 hasConcept C126322002 @default.
- W2005526108 hasConcept C138885662 @default.
- W2005526108 hasConcept C15708023 @default.
- W2005526108 hasConcept C2778063965 @default.
- W2005526108 hasConcept C2779030066 @default.
- W2005526108 hasConcept C2780524430 @default.
- W2005526108 hasConcept C29456083 @default.
- W2005526108 hasConcept C71924100 @default.
- W2005526108 hasConceptScore W2005526108C126322002 @default.
- W2005526108 hasConceptScore W2005526108C138885662 @default.
- W2005526108 hasConceptScore W2005526108C15708023 @default.
- W2005526108 hasConceptScore W2005526108C2778063965 @default.
- W2005526108 hasConceptScore W2005526108C2779030066 @default.
- W2005526108 hasConceptScore W2005526108C2780524430 @default.
- W2005526108 hasConceptScore W2005526108C29456083 @default.
- W2005526108 hasConceptScore W2005526108C71924100 @default.
- W2005526108 hasIssue "6" @default.
- W2005526108 hasLocation W20055261081 @default.
- W2005526108 hasOpenAccess W2005526108 @default.
- W2005526108 hasPrimaryLocation W20055261081 @default.
- W2005526108 hasRelatedWork W1247515684 @default.
- W2005526108 hasRelatedWork W1564128032 @default.
- W2005526108 hasRelatedWork W1984910737 @default.
- W2005526108 hasRelatedWork W1994505439 @default.
- W2005526108 hasRelatedWork W201671599 @default.
- W2005526108 hasRelatedWork W2086746521 @default.
- W2005526108 hasRelatedWork W2268972255 @default.
- W2005526108 hasRelatedWork W2426603431 @default.
- W2005526108 hasRelatedWork W3138986170 @default.
- W2005526108 hasRelatedWork W4252922890 @default.
- W2005526108 hasVolume "35" @default.
- W2005526108 isParatext "false" @default.
- W2005526108 isRetracted "false" @default.
- W2005526108 magId "2005526108" @default.
- W2005526108 workType "article" @default.