Enfoque diagnóstico molecular utilizando secuenciación exómica en las distrofias musculares cintura-cadera

Background. Limb-girdle muscular dystrophy type 1B has a dominant autosomal inheritance pattern and is caused by a mutation in the LMNA gene. This disease has a major neuromuscular and cardiac compromise; furthermore, it belongs to the limb-girdle muscular dystrophies. Objective. To make a clinical...

Full description

Autores:

Ramírez Botero, Andrés Felipe
Rodríguez Cruz, Oscar
Castillo, Andrés
Pachajoa Londoño, Harry Mauricio
Quiñones, Jairo Alonso
Gil, Maria Teresa
Lois, Sergio
Fernández Pedrosa, Victoria
Collado, Carmen
Posso Gómez, Leidy Johanna

Tipo de recurso:

Article of investigation

Fecha de publicación:

2016

Institución:

Universidad ICESI

Repositorio:

Repositorio ICESI

Idioma:

spa

OAI Identifier:

oai:repository.icesi.edu.co:10906/81711

Acceso en línea:

http://www.revistas.unal.edu.co/index.php/revfacmed/article/view/53037
http://hdl.handle.net/10906/81711
http://dx.doi.org/10.15446/revfacmed.v64n1.53037

Palabra clave:

Genética
Distrofias musculares
Cardiomiopatía dilatada
Ciencias socio biomédicas
Medical sciences
Biología
Biology

Rights

openAccess

License

https://creativecommons.org/licenses/by-nc-nd/4.0/