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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)
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 ...
Distrofia muscular congênita estudo clinico de 17 pacientes
(Academia Brasileira de Neurologia - ABNEURO, 1991-09-01)
We concur with the idea that congenital muscular dystrophy (CMD) is a distinct clinical entity, and report 17 patients (2 negroes and 15 whites; 12M and 5 F; median age 6 years, range 1 to 24 years) with genetic, clinical, ...
Caracterização clínica, genética e radiológica das disferlinopatias
(Universidade Federal de São Paulo, 2021)
Objetivos: O objetivo primário desse estudo foi realizar a caracterização clínica de aspectos motores e não-motores relacionados a pacientes com diagnóstico de disferlinopatias acompanhados no setor de investigação de ...
Clinical and molecular findings in a cohort of ANO5-related myopathy
(2019-07-01)
Objective: ANO5-related myopathy is an important cause of limb-girdle muscular dystrophy (LGMD) and hyperCKemia. The main descriptions have emerged from European cohorts, and the burden of the disease worldwide is unclear. ...