Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood

Research output: Contribution to journal › Research article › Contributed › peer-review

Contributors

  • Maggie C. Walter - , Friedrich-Baur-Institute, Ludwig Maximilian University of Munich (Author)
  • G. Dekomien - , Ruhr University Bochum (Author)
  • B. Schlotter-Weigel - , TUD Dresden University of Technology (Author)
  • P. Reilich - , TUD Dresden University of Technology (Author)
  • D. Pongratz - , TUD Dresden University of Technology (Author)
  • W. Müller-Felber - , TUD Dresden University of Technology (Author)
  • J. T. Epplen - , Ruhr University Bochum (Author)
  • A. Huebner - , Department of Paediatrics (Author)
  • Hanns Lochmüller - , TUD Dresden University of Technology, Ludwig Maximilian University of Munich (Author)

Abstract

Several forms of recessive limb girdle muscular dystrophy (LGMD2C-F) are due to mutations in genes coding for sarcoglycans. Clinically, most sarcoglycanopathies present in childhood with skeletal muscle wasting and early loss of ambulation; respiratory insufficiency is rare. However, some cases of LGMD2D with a late onset and a milder course have been reported. In this study, two adult brothers, compound heterozygous for two missense mutations of the SGCA gene (Arg77Cys, Val247Met), presented with respiratory insufficiency while they were still ambulatory.

Details

Original languageEnglish
Pages (from-to)1-5
Number of pages5
Journal Acta myologica : (myopahties, cardiomyopathies and neuromyopathies) ; official journal of the Mediterranean Society of Myology
Volume23
Issue number1
Publication statusPublished - May 2004
Peer-reviewedYes

External IDs

Scopus 2642573589
PubMed 15298081

Keywords

ASJC Scopus subject areas

Keywords

  • LGMD2D, Muscular dystrophy, Respiratory insufficiency, Sarcoglycanopathy, SGCA gene