A novel mutation in limb girdle muscular dystrophy
P. R. health sci. j
;
26(3): 229-232, Sept. 2007.
Artigo
em Inglês
| 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)
Assunto principal:
Distrofia Muscular do Cíngulo dos Membros
/
Mutação
Limite:
Adulto
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
P. R. health sci. j
Assunto da revista:
Medicina
Ano de publicação:
2007
Tipo de documento:
Artigo
País de afiliação:
Porto Rico
Instituição/País de afiliação:
University of Puerto Rico/PR
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