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Enfermedad de Steinert y embarazo: caso clínico
(Sociedad Chilena de Obstetricia y Ginecología, 2011)
Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects
(Academia Brasileira de Neurologia - ABNEURO, 2009)
The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, ...
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, ...
Estudo genético de pacientes brasileiros com miopatias relacionadas à selenoproteína N1
(Universidade Federal de Minas GeraisUFMG, 2016-08-22)
Introduction: Different kinds of myopathy are related to the selenoprotein N1 gene, among which: congenital muscular dystrophy with rigid spine (RSMD) multiminicore myopathy (Mm), desminopathy with Mallory body and congenital ...
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 ...