Results 71 to 80 of about 1,153 (130)

Estudo descritivo de uma série clínica de Distrofia Miotónica tipo 1 na ULS da Guarda [PDF]

, 2018
Introdução: A distrofia miotónica (DM) é uma doença hereditária, clínica e geneticamente heterogénea. O tipo 1 é a distrofia muscular mais prevalente. Esta patologia tem como causa uma expansão do trinucleótido instável CTG (Cisteína Tiamina Guanina) do ...
Gomes, David Noivo
core  

Proceso de contracción y desregulación del músculo asociadas a patologías de origen genético [PDF]

The topic of body tissues has been extensively documented in textbooks and review articles, as it is a topic of interest in teaching and clinical practice. This is due to the fact that, in medical practice and for other health professionals, knowledge of
de la Fuente Vera , Elena Anel, Molina-Trinidad, Eva María   +1 more
core   +2 more sources

Embarazada con enfermedad de Steinert. Presentación de un caso [PDF]

, 2014
A case report of Steinert's disease is made in a 24-year-old woman with a diagnosis made by the clinic, complementary blood tests, electromyography and muscle biopsy, who comes with a pregnancy of approximately 32 weeks almost asymptomatic, with myotonia
Casas Díaz, Carlos Alberto, Lima Rodríguez, Ulises, Álvarez LLanes, Rolando   +2 more
core   +1 more source

Eficacia y efectividad de la fisioterapia en la distrofia miotónica de Steinert: revisión crítica narrativa. [PDF]

, 2017
La distrofia miotónica tipo 1 (DM1) o enfermedad de Steinert es una enfermedad hereditaria, progresiva y degenerativa en la que los síntomas tienden a empeorar gradualmente a lo largo del tiempo. Dichos síntomas, afectan principalmente al sistema músculo-
Beltrán García, Elena
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Distrofia miotónica congénita de Steinert. Presentación de una paciente [PDF]

, 2015
Steinert'scongenital myotonic dystrophy is a hereditary disease with a pattern of dominant autosomal inheritance that has broad forms of presentation and can occur from early life to adulthood.
Concepción Pacheco, Lyz Mary, Meneses Agüero, Reina Yudyt   +1 more
core   +1 more source

Differential diagnosis of temporal lobe lesions with hyperintense signal on T2-weighted and FLAIR sequences: pictorial essay. [PDF]

Radiol Bras, 2020
Santana LM, Valadares EJA, Rosa-Júnior M.   +2 more
europepmc   +1 more source

DISTÚRBIO DO CICLO SONO-VIGÍLIA DO TIPO LIVRE-CURSO EM PACIENTE COM DISTROFIA MIOTÔNICA DO TIPO 1 COM BOA RESPOSTA AO USO DE AGOMELATINA: RELATO DE CASO

Sleep Science, 2015
Lúcio Huebra Pimentel Filho, Gilson das Neves Martins Junior, Gabriela de Assis Pereira, Renata de Carvalho Cremaschi, Sergio Tufik, Gilmar Prado, Fernando Morgadinho Coelho   +6 more
doaj   +1 more source

Epidemiology and molecular characterization of adult genetic myopathies in a southeastern region of Spain. [PDF]

Rev Neurol
Ros-Arlanzón P, Pelegrín-Durá L, Aledo-Sala C, Moreno-Navarro L, Vaamonde-Esteban Y, Muñoz-Ambit A, Sánchez-Pérez R, Díaz-Marín C.   +7 more
europepmc   +1 more source

Análisis genético y molecular de las enfermedades neurológicas hereditarias [PDF]

, 1996
Palau, Francesc
core  

[Clinical and genetic characterisation of hereditary distal myopathies in a series of Colombian patients]. [PDF]

Rev Neurol
Oliveros-Acuña N, Tafur-Gómez N, Ortiz-Corredor F, Castellar-Leones S, Rojas-García W, Correa-Arrieta C.   +5 more
europepmc   +1 more source