Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I

Research output: Contribution to journalLetterContributedpeer-review

Contributors

  • Maja Poppe - , Newcastle University (Author)
  • John Bourke - , Newcastle University (Author)
  • Michelle Eagle - , Newcastle University (Author)
  • Patrick Frosk - , University of Manitoba (Author)
  • Klaus Wrogemann - , University of Manitoba (Author)
  • Cheryl Greenberg - , University of Manitoba (Author)
  • Francesco Muntoni - , Imperial College London (Author)
  • Thomas Voit - , University of Duisburg-Essen (Author)
  • Volker Straub - , University of Duisburg-Essen (Author)
  • David Hilton-Jones - , Radcliffe Infirmary (Author)
  • Cheerag Shirodaria - , Radcliffe Infirmary (Author)
  • Kate Bushby - , Newcastle University (Author)

Abstract

Mutations in the gene encoding fukutin-related protein cause limb-girdle muscular dystrophy 2I. In this multicenter retrospective analysis of 38 patients, 55.3% had cardiac abnormalities, of which 24% had developed cardiac failure. Heterozygotes for the common C826A mutation developed cardiac involvement earlier than homozygotes. All patients initially improved while receiving standard therapy. Independent of cardiac status, forced vital capacity was below 75% in 44.4% of the patients. There was no absolute correlation between skeletal muscle weakness and cardiomyopathy or respiratory insufficiency. These complications are a primary part of this specific type of limb-girdle muscular dystrophy, with important implications for management.

Details

Original languageEnglish
Pages (from-to)738-741
Number of pages4
JournalAnnals of Neurology
Volume56
Issue number5
Publication statusPublished - Nov 2004
Peer-reviewedYes
Externally publishedYes

External IDs

Scopus 9144248503
PubMed 15505776

Keywords

ASJC Scopus subject areas