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Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation.

Abstract
We describe 7 transplanted heart recipients from a single family with limb-girdle muscular dystrophy type 1B linked to a mutation of the LMNA gene in the splice donor site of the exon 9 (IVS 9+1:g>a). These patients did not display higher early postoperative or late complications than other heart transplant recipients at a mean follow-up of 8 years (range 1-17 years). Noticeably, there was no case of rhabdomyolysis and skeletal muscle symptoms were not markedly impaired.
AuthorsPierre Ambrosi, Annick Mouly-Bandini, Sharam Attarian, Gilbert Habib
JournalInternational journal of cardiology (Int J Cardiol) Vol. 137 Issue 3 Pg. e75-6 (Nov 12 2009) ISSN: 1874-1754 [Electronic] Netherlands
PMID19446900 (Publication Type: Case Reports, Letter)
Chemical References
  • LMNA protein, human
  • Lamin Type A
Topics
  • Cardiomyopathy, Dilated (genetics, surgery)
  • Female
  • Heart Transplantation
  • Humans
  • Lamin Type A (genetics)
  • Male
  • Middle Aged
  • Muscular Dystrophies, Limb-Girdle (genetics)
  • Mutation
  • Pedigree

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