Article
A novel mutation in limb girdle muscular dystrophy.
Puerto Rico health sciences journal - 1 Sept 2007
Correa Margarita, Gómez César G
Abstract excerpt
We describe a patient with limb girdle muscular dystrophy with evidence of a D596N novel mutation of the LMNA gene. He presented with a dilated cardiomyopathy and heart failure. He successfully underwent a cardiac rehabilitation program without cardiovascular complications. Clinicians should suspect a variety of a wide array of diseases including laminopathy, dystrophinopathy, sarcoglynopathy and LGMD 2I. Further...
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