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	Provedor de dados 74 (1) 77 (1) Autor Cabello,Pedro H. (1) Duro,Luiz Alves (1) Freitas,Silvia Regina Sampaio (1) Guimarães,Antonio Sergio (1) Marie,Suely K. Nagahashi (1) Moura-Neto,Rodrigo Soares (1) Suazo Galdames,Iván (1) Mais... Palavra-chave Myotonic dystrophy (2) CTG repeat (1) DMPK gene (1) Dynamic mutation (1) Magnetic resonance imaging (1) Steinert's disease (1) Temporomandibular joint (1) Trinucleotide repeat (1) Mais... Tipo do documento Info:eu-repo/semantics/article (1) Journal article (1) Ano 2013 (1) 2007 (1) País Brazil (1) Chile (1) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Analysis of the DMPK gene CTG repeat in healthy Brazilians 74 Freitas,Silvia Regina Sampaio; Cabello,Pedro H.; Moura-Neto,Rodrigo Soares; Duro,Luiz Alves. Myotonic dystrophy (DM) is a neuromuscular disorder caused by the expansion of the cytosine-thymine-guanine (CTG) repeat of the myotonic dystrophy protein kinase gene (DMPK). This repeat is highly polymorphic in healthy individuals [(CTG)5-37], and it has been proposed that expanded CTG alleles originated from larger sized normal alleles [(CTG)19-37]. According to this hypothesis, a positive correlation should be expected between the frequency of these large-sized normal alleles and the prevalence of the disorder in a population. We determined the distribution of CTG alleles of the DMPK gene in 156 healthy Brazilians from Rio de Janeiro city. Our analyses of 312 chromosomes detected 20 different alleles ranging in size from 5 to 27 CTG repeats, with 24... Tipo: Info:eu-repo/semantics/article Palavras-chave: Myotonic dystrophy; Dynamic mutation; Trinucleotide repeat; CTG repeat; DMPK gene. Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000100004 Temporomandibular Joint Magnetic Resonance Imaging Analysis in Adults with Steinert's Myotonic Dystrophy 77 Guimarães,Antonio Sergio; Suazo Galdames,Iván; Marie,Suely K. Nagahashi. The aim was to analyze the characteristics of the temporomandibular joint (TMJ) in a group of adult patients suffering from Steinert's muscular dystrophy (DM1). This study included 42 adult patients aged between 21 and 69 years (mean = 38.7619; SD = 12.74) who were diagnosed for DM1. Study was conducted using the MRI of right and left TMJ sagittal images taken in maximum intercuspidation position and maximum oral opening without pain, and the following were discussed: a) the quality of the cortical bone in the mandibular fossa, tuberosity, and mandibular head; b) the relationship of mandibular head­disc­joint tuberosity in maximum intercuspidation position; c) the anatomical shape of the articular disc. All patients showed abnormalities in the shape and... Tipo: Journal article Palavras-chave: Temporomandibular joint; Steinert's disease; Myotonic dystrophy; Magnetic resonance imaging. Ano: 2013 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022013000100047 Registros recuperados: 2 Primeira ... 1 ... Última

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