Article
Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 May 2004
Walter M C, Dekomien G, Schlotter-Weigel B, Reilich P, Pongratz D, Müller-Felber W, Epplen J T, Huebner A, Lochmüller H
Abstract excerpt
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...
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