Publications by authors named "Jaime Antonio Medranda Corral"
Is the Next Generation Sequencing the Essential Tool for the Early Diagnostic Approach in Congenital Muscular Dystrophy? New Mutation in the Gen LMNA Associated with Serious Phenotype.
Guillermo Martin Avila Ana Pinel González Araceli Abad Belén Gil Fournier Soraya Ramiro León Jaime Antonio Medranda Corral
Neurol India
January 2022
Background: Laminopathies are a group of diseases caused by mutations in the LMNA gene. Congenital dystrophy of the LMN is a rare disease, with less than 100 cases described in the literature.
Objectives And Materials And Methods: We present the clinical case of a patient with congenital muscular dystrophy associated with an undescribed mutation in the LMNA gene.