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Distrofia muscular de DuchenneDuchenne's muscular dystrophy
(Grupo Editorial Moreira Junior, 2017)
Padronização de parâmetros eletrocardiográficos de cães da raça Golden Retriever clinicamente sadios
(RIO DE JANEIRO, 2010)
A distrofia muscular de Duchenne (DMD) em humanos é uma alteração neuromuscular hereditária, de caráter recessivo, ligada ao cromossomo X e causada pela ausência ou disfunção da distrofina. Clinicamente, caracteriza-se por ...
Avaliação motora de pacientes portadores de doenças neuromusculares: um estudo longitudinal
(Universidade Federal de Minas GeraisUFMG, 2010-03-03)
Neuromuscular diseases (NMD) are genetic or acquired affections, which may affect the anterior horn of the spinal cord, peripheral nerves, the myoneural junction or the muscle. The estimate is that these diseases affect ...
Effects of respiratory muscle training on respiratory muscle strength and heart rate variability in myotonic dystrophy patients type 1
(Journal of Respiratory and CardioVascular Physical Therapy, 2023)
Reviewing Large LAMA2 Deletions and Duplications in Congenital MuscularDystrophy Patients
(IOS PressAmsterdam, 2014-09-30)
Background: Congenital muscular dystrophy (CMD) type 1A (MDC1A) is caused by recessive mutations in laminin-α2 (LAMA2) gene. Laminin-211, a heterotrimeric glycoprotein that contains the α2 chain, is crucial for muscle ...
A complex interplay of genetic and epigenetic events leads to abnormal expression of the DUX4 gene in facioscapulohumeral muscular dystrophy
(Pergamon-Elsevier Science Ltd, 2016-12)
Facioscapulohumeral muscular dystrophy (FSHD), a prevalent inherited human myopathy, develops following a complex interplay of genetic and epigenetic events. FSHD1, the more frequent genetic form, is associated with: (1) ...
Carrier detection of Duchenne muscular dystrophy in Colombia families by microsatellite analysis
Introduction: The muscular dystrophies of Duchenne and Becker are X-linked recessive neuromuscular disorders; the carrier testing protocols include mutation detection or linkage analysis. Objective: The aim of this ...
Anestesia para colecistectomía videolaparoscópica en paciente portador de enfermedad de Steinert. Relato de caso y revisiõn de la literatura
(2010-03-01)
BACKGROUND AND OBJECTIVES: Myotonic dystrophies are autosomal dominant neuromuscular diseases. Among them, myotonic dystrophy type 1 (MD1), or Steinert disease, is the most common in adults, and besides muscular involvement ...
Anestesia para colecistectomía videolaparoscópica en paciente portador de enfermedad de Steinert. Relato de caso y revisiõn de la literatura
(2010-03-01)
BACKGROUND AND OBJECTIVES: Myotonic dystrophies are autosomal dominant neuromuscular diseases. Among them, myotonic dystrophy type 1 (MD1), or Steinert disease, is the most common in adults, and besides muscular involvement ...
Distrofia muscular de Becker con duplicación en el exón 5del gen DMD
(Sociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Salud, 2019-07-01)