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 and molecular confirmatory diagnosis in a patient with proximal muscular weakness and cardiac symptoms using whole exome sequencing. Materials and Methods. This is the case of a 57 year old patient with a slowly progressive proximal muscular weakness and cardiac compromise; furthermore, the patient has many relatives with the same clinical history. Whole exome sequencing with Sanger confirmation and bioinformatics analysis was performed on the found mutation.

• 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/