Buscar
Mostrando ítems 1-10 de 53
Fukuyama-type congenital muscular dystrophy: a case report in the Japanese population living in Brazil
(Blackwell Munksgaard, 2002-08-01)
Introduction We present herein clinical, histological and magnetic resonance imaging (MRI) findings in a patient with Fukuyama-type congenital muscular dystrophy ( FCMD). He is the first case report in the Japanese population ...
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 ...
Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives
(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, ...
Avaliação da função motora em crianças com distrofia muscular congênita com deficiência da merosina
(Academia Brasileira de Neurologia - ABNEURO, 2005-06-01)
Congenital muscular dystrophy (CMD) is a heterogeneous group of disorders characterized by early onset of hypotonia and weakness. Almost 50% of the cases are caused by primary deficiency of a protein named merosin (MD), ...
Análise da expressão do colágeno VI na distrofia muscular congênita
(Academia Brasileira de Neurologia - ABNEURO, 2005-06-01)
Congenital muscular dystrophy (CMD) composes a group of disorders characterized by hypotonia and muscular weakness noticed in the first year of life. The Ullrich's form is characterized by proximal joint contractures and ...
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, ...