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- Oculopharyngeal_muscular_dystrophy abstract "Oculopharyngeal muscular dystrophy (OPMD) can be autosomal dominant neuromuscular disease or autosomal recessive which appears in early middle age (fifth decade). The most common inheritance of OPMD is autosomal dominant, which means only one copy of the mutated gene needs to be present in each cell. Children of an affected parent have a 50% chance of inheriting the mutant gene. Generally, autosomal dominant inheritance have a strong family tie. Less commonly, OPMD can be inherited in a autosomal recessive pattern, which means that two copies of the mutated gene need to be present in each cell, both parents need to be carries of the mutated gene, and usually show no signs or symptoms. The PABPN1 mutation leads to a polyalanine tract that is 11 alanines long. OPMD is an example of a trinucleotide repeat disorder caused by expanding (GCN)10 to (GCN)11-17 at the 5' end of the coding region for PABPN1. This expands the polyalanine tract at the N-terminus of PABPN1 from 10 to 11-17 alanines.".
- Oculopharyngeal_muscular_dystrophy diseasesdb "29869".
- Oculopharyngeal_muscular_dystrophy icd10 "G71.0".
- Oculopharyngeal_muscular_dystrophy icd9 "359.1".
- Oculopharyngeal_muscular_dystrophy meshId "D039141".
- Oculopharyngeal_muscular_dystrophy omim "164300".
- Oculopharyngeal_muscular_dystrophy thumbnail MuscularDystrophy.png?width=300.
- Oculopharyngeal_muscular_dystrophy wikiPageExternalLink www.mdahellas.gr.
- Oculopharyngeal_muscular_dystrophy wikiPageExternalLink br.fcgi?book=gene&part=opmd.
- Oculopharyngeal_muscular_dystrophy wikiPageID "1039516".
- Oculopharyngeal_muscular_dystrophy wikiPageRevisionID "597560137".
- Oculopharyngeal_muscular_dystrophy caption "In affected muscle the tissue becomes disorganized and the concentration of dystrophin is greatly reduced, compared to normal muscle .".
- Oculopharyngeal_muscular_dystrophy diseasesdb "29869".
- Oculopharyngeal_muscular_dystrophy genereviewsname "Oculopharyngeal Muscular Dystrophy".
- Oculopharyngeal_muscular_dystrophy genereviewsnbk "NBK1126".
- Oculopharyngeal_muscular_dystrophy hasPhotoCollection Oculopharyngeal_muscular_dystrophy.
- Oculopharyngeal_muscular_dystrophy icd "359.1".
- Oculopharyngeal_muscular_dystrophy icd "G71.0".
- Oculopharyngeal_muscular_dystrophy meshid "D039141".
- Oculopharyngeal_muscular_dystrophy name "Oculopharyngeal muscular dystrophy".
- Oculopharyngeal_muscular_dystrophy omim "164300".
- Oculopharyngeal_muscular_dystrophy wordnet_type synset-disease-noun-1.
- Oculopharyngeal_muscular_dystrophy subject Category:Autosomal_dominant_disorders.
- Oculopharyngeal_muscular_dystrophy subject Category:Muscular_dystrophy.
- Oculopharyngeal_muscular_dystrophy subject Category:Rare_diseases.
- Oculopharyngeal_muscular_dystrophy type Disease.
- Oculopharyngeal_muscular_dystrophy type AilmentCondition.
- Oculopharyngeal_muscular_dystrophy type Situation.
- Oculopharyngeal_muscular_dystrophy comment "Oculopharyngeal muscular dystrophy (OPMD) can be autosomal dominant neuromuscular disease or autosomal recessive which appears in early middle age (fifth decade). The most common inheritance of OPMD is autosomal dominant, which means only one copy of the mutated gene needs to be present in each cell. Children of an affected parent have a 50% chance of inheriting the mutant gene. Generally, autosomal dominant inheritance have a strong family tie.".
- Oculopharyngeal_muscular_dystrophy label "Distrofia muscular oculofaríngea".
- Oculopharyngeal_muscular_dystrophy label "Dystrophie musculaire oculo-pharyngée".
- Oculopharyngeal_muscular_dystrophy label "Oculopharyngeal muscular dystrophy".
- Oculopharyngeal_muscular_dystrophy sameAs Distrofia_muscular_oculofaríngea.
- Oculopharyngeal_muscular_dystrophy sameAs Dystrophie_musculaire_oculo-pharyngée.
- Oculopharyngeal_muscular_dystrophy sameAs m.040nl9.
- Oculopharyngeal_muscular_dystrophy sameAs Q3042171.
- Oculopharyngeal_muscular_dystrophy sameAs Q3042171.
- Oculopharyngeal_muscular_dystrophy sameAs 857.
- Oculopharyngeal_muscular_dystrophy wasDerivedFrom Oculopharyngeal_muscular_dystrophy?oldid=597560137.
- Oculopharyngeal_muscular_dystrophy depiction MuscularDystrophy.png.
- Oculopharyngeal_muscular_dystrophy isPrimaryTopicOf Oculopharyngeal_muscular_dystrophy.
- Oculopharyngeal_muscular_dystrophy name "Oculopharyngeal muscular dystrophy".