How to Cite
Correa, M., & Gómez, C. G. (2007). A novel mutation in limb girdle muscular dystrophy. Puerto Rico Health Sciences Journal, 26(3). Retrieved from https://prhsj.rcm.upr.edu/index.php/prhsj/article/view/243
Abstract
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 studies should focus on determining the specific mode of inheritance and genetic testing should be considered in these patients.
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