A novel mutation in limb girdle muscular dystrophy.
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.
Correa
Margarita
M
Department of Physical Medicine, Rehabilitation and Sports Health, University of Puerto Rico School of Medicine, San Juan, Puerto Rico. mcorrea@rcm.upr.edu
Gómez
César G
CG
D000328:Adult; D006801:Humans; D008297:Male; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics*; D009154:Mutation