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Estudo da miotonia hereditária em suínos
(Universidade Estadual Paulista (Unesp), 2018-07-10)
A principal causa de miotonia não distrófica hereditária ocorre devido à mutações no gene CLCN1, codificante para a proteína CLC1 que forma o canal iônico seletivo para o íon cloreto predominante no tecido muscular ...
Aspectos genéticos y moleculares de las enfermedades miotónicas
(Revista de Neurología 38 (7) p 668-674, 2004)
Aim. The aim is to review the molecular and genetic aspects of the dystrophic and no-dystrophic myotonias. Background.
Myotonic diseases are hereditary conditions of the skeletal muscle, classified in two groups depending ...
Aspectos genéticos y moleculares de las enfermedades miotónicas
(Revista de Neurología 38 (7) p 668-674, 2004)
Aim. The aim is to review the molecular and genetic aspects of the dystrophic and no-dystrophic myotonias. Background.
Myotonic diseases are hereditary conditions of the skeletal muscle, classified in two groups depending ...
Miotonía congénita: reporte de un caso
Becker syndrome is a congenital myotonia of autosomal recessive inheritance that is produced by mutations in the skeletal muscle chlorine gene (CLCN1) leading to a defect in its function. It generally begins in childhood ...
Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenital (Becker disease) carrying a new mutation in the CLCN1 gene
(Revista de Biología Tropical 56(1) p.1-11, 2006-08-18)
Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It
is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively.
Here we confirm ...
Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenital (Becker disease) carrying a new mutation in the CLCN1 gene
(Revista de Biología Tropical 56(1) p.1-11, 2006-08-18)
Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It
is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively.
Here we confirm ...
Síndrome de Bartter. Reporte de un caso y revisión de la literatura
(Universidad Militar Nueva Granada, 2011)
Síndrome de Bartter. Reporte de un caso y revisión de la literatura
(Universidad Militar Nueva Granada, 2011)
Epilepsies Associated With Hippocampal Sclerosis
(Springer Verlag, 2014)