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

Publikation: Beitrag in FachzeitschriftKurzartikel (Letter) / Leserbrief mit OriginaldatenBeigetragenBegutachtung

Beitragende

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

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

OriginalspracheEnglisch
Seiten (von - bis)738-741
Seitenumfang4
FachzeitschriftAnnals of Neurology
Jahrgang56
Ausgabenummer5
PublikationsstatusVeröffentlicht - Nov. 2004
Peer-Review-StatusJa
Extern publiziertJa

Externe IDs

Scopus 9144248503
PubMed 15505776

Schlagworte

ASJC Scopus Sachgebiete