Introducción: La Distrofia Muscular Duchenne (DMD) forma parte de las llamadas enfermedades raras o huérfanas por su baja prevalencia en la población. No por ello se le debe restar importancia ya que sus condiciones ...

Objective: Thymidine kinase 2, encoded by the nuclear gene TK2, is required for mitochondrial DNA maintenance. Autosomal recessive TK2 mutations cause depletion and multiple deletions of mtDNA that manifest predominantly ...

Duchenne muscular dystrophy (DMD) is a recessive X-linked disease, due to changes in the dystrophin gene, affecting males. It is characterized by progressive muscle weakness, joint retractions, loss of ambulation, and early ...

Introduction: Despite the emerging role of indicators for the evaluation of quality of care in physical therapy, these have been developed mainly for other health areas and only some are relevant and applicable to physical ...