A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy.
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.
Vohanka
S
S
Department of Neurology, University Hospital Brno, Jihlavská 20, 63900, Brno, Czech Republic.
Vytopil
M
M
Bednarik
J
J
Lukas
Z
Z
Kadanka
Z
Z
Schildberger
J
J
Ricotti
R
R
Bione
S
S
Toniolo
D
D
D000328:Adult; D009202:Cardiomyopathies / Q000235:genetics* / Q000503:physiopathology*; D008040:Genetic Linkage; D006329:Heart Conduction System / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency; D018482:Muscle, Skeletal / Q000378:metabolism / Q000503:physiopathology; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D009154:Mutation; D009687:Nuclear Proteins; D013946:Thymopoietins / Q000172:deficiency; D014960:X Chromosome / Q000235:genetics*
D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin