Search
Now showing items 1-10 of 69
Biopsia muscular
(Instituto Nacional de Pediatría, 2008)
Biopsia muscular
(Instituto Nacional de Pediatría, 2008)
MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB
(Wiley, 2021)
Background: We report the molecular analysis of the DMD gene in a group of Peruvian patients with Duchenne/Becker dystrophinopathy. This is the first study to thoroughly characterize mutations in this population.Methods: ...
Guía de práctica clínica para el diagnóstico y tratamiento de la distrofia muscular de Duchenne. Sociedad Peruana de Neurología. Versión Corta
(Colegio Médico del Perú, 2022)
Objective: to provide evidence-based clinical recommendations for the diagnosis and treatment of Duchenne Muscular Dystrophy. Methods: a guideline development group (GEG) was formed that included specialized physicians in ...
Inferring parental gonadal mosaicism in LMNA-associated muscular dystrophy by ultra-deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling
(Wiley-liss, div John Wiley & Sons Inc., 2019-03)
Nuclear laminopathies are a group of human genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina. Among them, mutations in LMNAcause diverse phenotypes. De novo LMNA variants have been ...
Distrofia muscular de Duchenne. Perspectivas desde la rehabilitación
(Universidad Militar Nueva Granada, 2011)
Distrofia muscular de Duchenne. Perspectivas desde la rehabilitación
(Universidad Militar Nueva Granada, 2011)
The dystrophinopathies in Costa Rica
(Universidad de Costa Rica, 2004)
Theragnosis for Duchenne Muscular Dystrophy
(Frontiers Media, 2021-06)
Dystrophinopathies cover a spectrum of rare progressive X-linked muscle diseases, arising from DMD mutations. They are among the most common pediatric muscular dystrophies, being Duchenne muscular dystrophy (DMD) the most ...