%0 Journal Article 
%T Enfoque diagnóstico molecular utilizando secuenciación exómica en las distrofias musculares cintura-cadera
%D 2016
%@ 0120-0011
%U http://hdl.handle.net/10906/81711
%X 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.

%K Genética
%K Distrofias musculares
%K Cardiomiopatía dilatada
%K Ciencias  socio biomédicas
%K Medical sciences
%K Biología
%K Biology
%~ GOEDOC, SUB GOETTINGEN