Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood
Walter, M.C.; Dekomien, G.; Schlotter-Weigel, B.; Reilich, P.; Pongratz, D.; Müller-Felber, W.; Epplen, J.T.; Huebner, A.; Lochmüller, H.
Acta Myologica Myopathies and Cardiomyopathies Official Journal of the Mediterranean Society of Myology 23(1): 1-5
2004
ISSN/ISBN: 1128-2460 PMID: 15298081 Document Number: 570553
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.