TY  - JOUR 
TI  - Enfoque diagnóstico molecular utilizando secuenciación exómica en las distrofias musculares cintura-cadera
PB  - Universidad Nacional de Colombia
PY  - 2016
issn 0120-0011
AB  - 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.

KW  - Genética
KW  - Distrofias musculares
KW  - Cardiomiopatía dilatada
KW  - Ciencias  socio biomédicas
KW  - Medical sciences
KW  - Biología
KW  - Biology
UR  - http://hdl.handle.net/10906/81711
ER  -