The spectrum of myopathies in the city of São Paulo
Arquivos de Neuro-Psiquiatria, 1976 A review of all myopathic patients treated at the Neurologic Clinic of the Medical School of the University of São Paulo during the past 15 years is reported.
José A. Levy +4 more
doaj
Diagnóstico molecular de la Distrofia Miotónica (DM) en Costa Rica
Acta Médica Costarricense, 2001 La Distrofia Miotónica es una enfermedad multisistémica de herencia autosómica dominante. El defecto molecular es una expansión del trinucleótido CTG presente en la región 3' no codificante (3´UTR) del gen DMPK, localizado en el cromosoma 19q13.3.
Fernando Morales Montero +4 more
doaj +2 more sources
CASO CL\ucdNICO. SINDROME DE RAPUNZEL: UNA FORMA INUSUAL DE TRICOBEZOAR [PDF]
El S\uedndrome de Rapunzel es una forma inusual de tricobezoar g\ue1strico con extensi\uf3n al intestino delgado, capaz de producir s\uedntomas gastrointestinales desde dolor, nauseas, v\uf3mitos incluso obstrucci\uf3n y perforaci\uf3n intestinal ...
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Distrofia Miotônica de Steinert: aspecto pericial no âmbito previdenciário
Saúde, Ética & Justiça, 2016 A distrofia miotônica de Steinert (DMS) é a doença genética degenerativa de acometimento muscular mais comum em adultos, com herança autossômica dominante por alteração do gene DMPK do cromossomo 19q13.3. Tal doença tem como características a penetrância
Douglas Sani Pimenta +3 more
doaj
Therapeutic Potential of AntagomiR-23b for Treating Myotonic Dystrophy. [PDF]
Mol Ther Nucleic Acids, 2020 Cerro-Herreros E +6 more
europepmc +1 more source
Steinert's congenital myotonic dystrophy: report of a patient
Acta Médica del Centro, 2012 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.
Reina Yudyt Meneses Agüero +1 more
doaj
Differential diagnosis of temporal lobe lesions with hyperintense signal on T2-weighted and FLAIR sequences: pictorial essay. [PDF]
Radiol Bras, 2020 Santana LM +2 more
europepmc +1 more source
Implicación ocular en pacientes con distrofia miotónica
Neurología, 2020 L. Vitiello +3 more
doaj +1 more source
Epidemiology and molecular characterization of adult genetic myopathies in a southeastern region of Spain. [PDF]
Rev NeurolRos-Arlanzón P +7 more
europepmc +1 more source
Análisis genético y molecular de las enfermedades neurológicas hereditarias [PDF]
, 1996 Palau, Francesc
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