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Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele.
Gómez-González, Clara; Rosas-Alonso, Rocío; Rodríguez-Antolín, Carlos; García-Guede, Alvaro; Ibáñez de Caceres, Inmaculada; Sanguino, Javier; Pascual, Samuel I; Esteban, Isabel; Pozo, Angela Del; Mori, María Ángeles; Torres, Rosa J; Prior, Carmen.
Afiliação
  • Gómez-González C; Department of Genetics, INGEMM, La Paz University Hospital, Madrid, Spain.
  • Rosas-Alonso R; Cancer Epigenetics Laboratory, INGEMM, La Paz University Hospital, Madrid, Spain; Biomarkers and Experimental Therapeutics in Cancer, IdiPaz, Madrid, Spain.
  • Rodríguez-Antolín C; Cancer Epigenetics Laboratory, INGEMM, La Paz University Hospital, Madrid, Spain; Biomarkers and Experimental Therapeutics in Cancer, IdiPaz, Madrid, Spain.
  • García-Guede A; Cancer Epigenetics Laboratory, INGEMM, La Paz University Hospital, Madrid, Spain; Biomarkers and Experimental Therapeutics in Cancer, IdiPaz, Madrid, Spain.
  • Ibáñez de Caceres I; Cancer Epigenetics Laboratory, INGEMM, La Paz University Hospital, Madrid, Spain; Biomarkers and Experimental Therapeutics in Cancer, IdiPaz, Madrid, Spain.
  • Sanguino J; Department of Genetics, INGEMM, La Paz University Hospital, Madrid, Spain.
  • Pascual SI; Department of Pediatric Neurology. La Paz University Hospital, Madrid, Spain.
  • Esteban I; Department of Anatomical Pathology. La Paz University Hospital, Madrid, Spain.
  • Pozo AD; Department of Bioinformatics, INGEMM, La Paz University Hospital, Madrid, Spain.
  • Mori MÁ; Department of Genetics, INGEMM, La Paz University Hospital, Madrid, Spain.
  • Torres RJ; La Paz University Hospital Health Research Institute (FIBHULP), IdiPaz, Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Spain. Electronic address: rtorres.hulp@salud.madrid.org.
  • Prior C; Department of Genetics, INGEMM, La Paz University Hospital, Madrid, Spain.
Eur J Med Genet ; 64(4): 104170, 2021 Apr.
Article em En | MEDLINE | ID: mdl-33618039
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Deleção Cromossômica / Miopatias Congênitas Estruturais / Proteínas Supressoras de Tumor / Proteínas Adaptadoras de Transdução de Sinal / Proteínas Tirosina Fosfatases não Receptoras Tipo de estudo: Diagnostic_studies Limite: Adolescent / Female / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Deleção Cromossômica / Miopatias Congênitas Estruturais / Proteínas Supressoras de Tumor / Proteínas Adaptadoras de Transdução de Sinal / Proteínas Tirosina Fosfatases não Receptoras Tipo de estudo: Diagnostic_studies Limite: Adolescent / Female / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article