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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood.

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.[1]

References

  1. 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 / edited by the Gaetano Conte Academy for the study of striated muscle diseases. (2004) [Pubmed]
 
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