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Small mutation screening in the DMD gene by whole exome sequencing of an Argentine Duchenne/Becker muscular dystrophies cohort
(Pergamon-Elsevier Science Ltd, 2018-12)
Dystrophinopathies are neuromuscular X-linked recessive diseases caused by mutations in the DMD gene. This study aimed to identify DMD gene small mutations by Whole Exome Sequencing (WES), in order to confirm clinical ...
Mutaciones patogénicas en el gen CAPN3 en pacientes con fenotipo inespecífico de LGMD2
(Universidad de Chile, 2018)
Las distrofias de cintura (LGMD) son un grupo de distrofias musculares caracterizadas por presentar un deterioro progresivo de los músculos de las cinturas escapular, pélvica y proximales de las extremidades. La LGMD2A es ...
Enfoque diagnóstico molecular utilizando secuenciación exómica en las distrofias musculares cintura-cadera
(Universidad Nacional de ColombiaFacultad Ciencias de la SaludMedicinaDepartamento de Ciencias Básicas MédicasBogotá, 2016-01-01)
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 ...
O efeito do treinamento muscular inspiratório associado ao uso da oxandrolona na função muscular respiratória de indivíduos com doença neuromuscular
(Universidade Federal de São Paulo (UNIFESP), 2006-01-01)
Purpose: to evaluate the effects of inspiratory muscle training (IMT) associated to anabolic steroid oxandrolone in pulmonary function of patients with neuromuscular diseases. Methods: Fourteen subjects (9 male, 5 female, ...
Erythrocyte alkaline phosphatase in patients with myotonic muscle disorders
(Universidad del Zulia, 2013)
Inflammasome up-regulation and activation in dysferlin-deficient skeletal muscle
(American Society for Investigative Pathology, 2018)
Frequency of dystrophic muscle abnormalities in chronic progressive external ophthalmoplegia: analysis of 86 patients
(B M J Publishing Group, 2006-04-01)
Background: There are few reports describing the coexistence of dystrophic features with those typical of mitochondrial myopathies in muscle biopsy. A recent study suggested that dystrophic features are frequent in patients ...
Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease
(Academia Brasileira de Neurologia - ABNEURO, 2010-04-01)
Pompe's disease (PD) is a metabolic myopathy caused by the accumulation of lysosomal glycogen, secondary to acid α-glucosidase (GAA) enzyme deficiency. Childhood and late-onset forms are described, differing by the age of ...
Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease
(Academia Brasileira de Neurologia - ABNEURO, 2010)
Pompe's disease (PD) is a metabolic myopathy caused by the accumulation of lysosomal glycogen, secondary to acid α-glucosidase (GAA) enzyme deficiency. Childhood and late-onset forms are described, differing by the ...