A novel mutation in limb girdle muscular dystrophy
P. R. health sci. j
;
26(3): 229-232, Sept. 2007.
Artículo
en Inglés
| LILACS
| ID: lil-476010
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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Índice:
LILACS (Américas)
Asunto principal:
Distrofia Muscular de Cinturas
/
Mutación
Límite:
Adulto
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
P. R. health sci. j
Asunto de la revista:
Medicina
Año:
2007
Tipo del documento:
Artículo
País de afiliación:
Puerto Rico
Institución/País de afiliación:
University of Puerto Rico/PR
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