About: A mutation in the X-linked emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
Description
  • A screening for mutation in the X-linked Emery-Dreifuss muscular dystrophy (X-EMD) gene was performed among patients affected with severe heart rhythm defects and/or dilated cardiomyopathy. Patients were selected from the database of the Department of Cardiology of the University Hospital Brno. One patient presented a mutation in the X-EMD gene and no emerin in his skeletal muscle. The patient had a severe cardiac disease but a very mild muscle disorder that had not been diagnosed until the mutations was found. This case shows that mutations in X-EMD gene, as it was shown for autosomal-dominant EMD, can cause a predominant cardiac phenotype.
  • A screening for mutation in the X-linked Emery-Dreifuss muscular dystrophy (X-EMD) gene was performed among patients affected with severe heart rhythm defects and/or dilated cardiomyopathy. Patients were selected from the database of the Department of Cardiology of the University Hospital Brno. One patient presented a mutation in the X-EMD gene and no emerin in his skeletal muscle. The patient had a severe cardiac disease but a very mild muscle disorder that had not been diagnosed until the mutations was found. This case shows that mutations in X-EMD gene, as it was shown for autosomal-dominant EMD, can cause a predominant cardiac phenotype. (en)
Title
  • A mutation in the X-linked emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy
  • A mutation in the X-linked emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy (en)
skos:prefLabel
  • A mutation in the X-linked emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy
  • A mutation in the X-linked emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy (en)
skos:notation
  • RIV/65269705:_____/01:00006363!RIV/2003/MZ0/L43003/N
http://linked.open.../vavai/riv/strany
  • 411-413
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • P(NF5919)
http://linked.open...iv/cisloPeriodika
  • 11
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 672187
http://linked.open...ai/riv/idVysledku
  • RIV/65269705:_____/01:00006363
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • Emery?Dreifuss muscular dystrophy;Mutations;Conduction cardiomyopathy (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [3633BD158D78]
http://linked.open...i/riv/nazevZdroje
  • Neuromuscular Disorders
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...vavai/riv/projekt
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • .
http://linked.open...iv/tvurceVysledku
  • Voháňka, Stanislav
number of pages
Faceted Search & Find service v1.16.118 as of Jun 21 2024


Alternative Linked Data Documents: ODE     Content Formats:   [cxml] [csv]     RDF   [text] [turtle] [ld+json] [rdf+json] [rdf+xml]     ODATA   [atom+xml] [odata+json]     Microdata   [microdata+json] [html]    About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data] Valid XHTML + RDFa
OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 77 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software