A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy

Stanislav Vohanka, Michal Vytopil, Josef Bednarik, Zdenek Lukas, Zdenek Kadanka, Jiri Schildberger, Roberta Ricotti, Silvia Bione, Daniela Toniolo

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)411-413
Number of pages3
JournalNeuromuscular Disorders
Volume11
Issue number4
DOIs
Publication statusPublished - 2001

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Keywords

  • Conduction cardiomyopathy
  • Emery-Dreifuss muscular dystrophy
  • Mutations

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Vohanka, S., Vytopil, M., Bednarik, J., Lukas, Z., Kadanka, Z., Schildberger, J., Ricotti, R., Bione, S., & Toniolo, D. (2001). A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy. Neuromuscular Disorders, 11(4), 411-413. https://doi.org/10.1016/S0960-8966(00)00206-6