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Mostrando ítems 91-100 de 175
Enfoque diagnóstico molecular utilizando secuenciación exómica en las distrofias musculares cintura-cadera
(Universidad Nacional de Colombia - Sede Bogotá - Facultad de Medicina, 2016-01-01)
Antecedentes. La distrofia muscular cintura-cadera tipo 1B es una enfermedad con herencia autosómica dominante y secundaria a una mutación en el gen LMNA. Esta enfermedad se caracteriza por su afectación a nivel neuromuscular ...
Thorough bioinformatic analysis of small variants in genes associated with Muscular Dystrophies
(Women in Bioinformatics & Data Science LA Conference, 2020)
Muscular Dystrophies (MD) are a group of rare inherited diseases that cause weakness and progressive degeneration of muscle tissue. The clinical symptoms of these pathologies overlap, hindering differential diagnosis, which ...
Avaliação da função motora em crianças com distrofia muscular congênita com deficiência da merosina
(Academia Brasileira de Neurologia - ABNEURO, 2005-06-01)
Congenital muscular dystrophy (CMD) is a heterogeneous group of disorders characterized by early onset of hypotonia and weakness. Almost 50% of the cases are caused by primary deficiency of a protein named merosin (MD), ...
Distrofia muscular Duchenne
(Escuela Superior Politécnica de Chimborazo, 2019-06-13)
The objective of this work was to analyze the clinical case of a 13-year-old male patient from the city of Archidona, who was diagnosed with Duchenne muscular dystrophy at the age of 7 years, currently under treatment with ...
Estudio intergeneracional de la mutación que causa la distrofia miotónica de tipo 1 en Costa Rica
(Revista de Neurología 2003; 36: 20-25, 2003-01-01)
Introduction. Myotonic dystrophy type 1 is a neuromuscular, degenerative and progressive disease, with an autosomal
dominant pattern of inheritance, variable eTressivity and incomplete penetrance. The genetic defect is ...
Estudio intergeneracional de la mutación que causa la distrofia miotónica de tipo 1 en Costa Rica
(Revista de Neurología 2003; 36: 20-25, 2003-01-01)
Introduction. Myotonic dystrophy type 1 is a neuromuscular, degenerative and progressive disease, with an autosomal
dominant pattern of inheritance, variable eTressivity and incomplete penetrance. The genetic defect is ...
Medida da função motora: versão da escala para o português e estudo de confiabilidadeMotor function measure scale: portuguese version and reliability analysis
(Associação Brasileira de Pesquisa e Pós-Graduação em Fisioterapia, 2008)
Duchenne muscular dystrophy: Current aspects and perspectives on treatment [Distrofia muscular de Duchenne: Actualidad y perspectivas de tratamiento]
(2009)
Introduction and development. Duchenne muscular dystrophy (DMD) is a severe neuromuscular disease of genetic origin that affects male children. It is characterized by progressive muscle deterioration which results in the ...