Journal of the Formosan Medical Association
Volume 106, Issue 2, Supplement , Pages S27-S31, 2007

Novel LMNA Mutation in a Taiwanese Family with Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

  • Wen-Chen Liang

      Affiliations

    • Departments of Pediatrics and Clinical Laboratory, Kaohsiung Medical University Hospital, NCNP, Tokyo, Japan
    • ,
  • Chung-Yee Yuo

      Affiliations

    • Department of Biomedical Science and Environmental Biology, College of Life Sciences, NCNP, Tokyo, Japan
    • ,
  • Chun-Ya Liu

      Affiliations

    • Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan
    • ,
  • Chee-Siong Lee

      Affiliations

    • Division of Cardiology, Department of Internal Medicine, Kaohsiung Medical University Hospital, NCNP, Tokyo, Japan
    • ,
  • Kanako Goto

      Affiliations

    • Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Tokyo, Japan
    • ,
  • Yukiko K. Hayashi

      Affiliations

    • Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Tokyo, Japan
    • ,
  • Yuh-Jyh Jong

      Affiliations

    • Departments of Pediatrics and Clinical Laboratory, Kaohsiung Medical University Hospital, NCNP, Tokyo, Japan
    • Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan
    • Corresponding Author InformationCorrespondence to: Dr Yuh-Jyh Jong Departments of Pediatrics and Clinical Laboratory, Kaohsiung Medical University Hospital, 100 Tz-You 1st Road, Kaohsiung 807, Taiwan

Received 2 December 2005; received in revised form 9 January 2006; accepted 7 March 2006.

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early-onset contractures, slowly progressive weakness, and muscle wasting in humeroperoneal muscles, and adult-onset cardiomyopathy with conduction block. We analyzed blood samples from an EDMD family, including a mother and two daughters, and found a novel mutation in codon 520 in exon 9 of the lamin A/C (LMNA) gene, resulting in a substitution of tryptophan (W) by glycine (G) in all three patients. The mother died after a stroke-like episode at the age of 43. The elder sister received pacemaker implantation, which improved symptoms of exercise intolerance and dizziness. These cases illustrate the necessity of correct diagnosis, evaluation, and follow-up of cardiac problems due to the wide clinical spectrum and high prevalence of cardiac conduction block in patients with autosomal dominant EDMD. [J Formos Med Assoc 2007;106(2 Suppl):S27-S31]

Key Words:  Emery-Dreifuss muscular dystrophy , LMNA gene

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PII: S0929-6646(09)60349-1

doi:10.1016/S0929-6646(09)60349-1

Journal of the Formosan Medical Association
Volume 106, Issue 2, Supplement , Pages S27-S31, 2007

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