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https://observatorio.fm.usp.br/handle/OPI/1998
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DC Field | Value | Language |
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dc.contributor | Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP | - |
dc.contributor.author | SILVA, Luciana Rodrigues Jacy da | - |
dc.contributor.author | COLOVATI, Mileny Esbravatti Stephano | - |
dc.contributor.author | COPRERSKI, Bruno | - |
dc.contributor.author | ANDRADE, Carlos Eugenio Fernandez de | - |
dc.contributor.author | ZANOTELI, Edmar | - |
dc.contributor.author | RASKIN, Salmo | - |
dc.contributor.author | OLIVEIRA, Mariana Moyses | - |
dc.contributor.author | MELARAGNO, Maria Isabel | - |
dc.contributor.author | PEREZ, Ana Beatriz Alvarez | - |
dc.date.accessioned | 2013-09-23T16:41:21Z | - |
dc.date.available | 2013-09-23T16:41:21Z | - |
dc.date.issued | 2013 | - |
dc.identifier.citation | NEUROMUSCULAR DISORDERS, v.23, n.5, p.388-390, 2013 | - |
dc.identifier.issn | 0960-8966 | - |
dc.identifier.uri | https://observatorio.fm.usp.br/handle/OPI/1998 | - |
dc.description.abstract | We report a 3-year-old female with type I spinal muscular atrophy (SMA) born to a young and non-consanguineous couple. The child presented at two months of life with intense muscle weakness affecting predominantly proximal portions of the limbs, especially the legs, muscle hypotonia, fasciculation of the tongue, and severe respiratory muscle involvement. She remained in an intensive care unit with an assisted ventilation system from the fourth month of life. She died at 3 years of age from pulmonary infection. Molecular analysis confirmed the diagnosis of SMA but revealed that only the father was an asymptomatic carrier. Because SMN1 is mapped in a complex region containing repetitive elements due to an inverted duplication of approximately 500 kb, we carry out an SNP array and detected a 1.3 Mb deletion including the SMN1 and SMN2 genes that explain the disease. | - |
dc.language.iso | eng | - |
dc.publisher | PERGAMON-ELSEVIER SCIENCE LTD | - |
dc.relation.ispartof | Neuromuscular Disorders | - |
dc.rights | restrictedAccess | - |
dc.subject | Spinal muscular atrophy | - |
dc.subject | SNP array | - |
dc.subject | Genetic counseling | - |
dc.subject | SMN gene | - |
dc.subject.other | copy number | - |
dc.subject.other | 5q13 | - |
dc.subject.other | sma | - |
dc.subject.other | identification | - |
dc.subject.other | smn1 | - |
dc.title | Spinal muscular atrophy due to a ""de novo"" 1.3 Mb deletion: Implication for genetic counseling | - |
dc.type | article | - |
dc.rights.holder | Copyright PERGAMON-ELSEVIER SCIENCE LTD | - |
dc.identifier.doi | 10.1016/j.nmd.2013.01.009 | - |
dc.identifier.pmid | 23453857 | - |
dc.subject.wos | Clinical Neurology | - |
dc.subject.wos | Neurosciences | - |
dc.type.category | original article | - |
dc.type.version | publishedVersion | - |
hcfmusp.author.external | SILVA, Luciana Rodrigues Jacy da:Univ Fed Sao Paulo, Dept Morphol & Genet, Ctr Med Genet, BR-04020041 Sao Paulo, Brazil | - |
hcfmusp.author.external | COLOVATI, Mileny Esbravatti Stephano:Univ Fed Sao Paulo, Dept Morphol & Genet, Ctr Med Genet, BR-04020041 Sao Paulo, Brazil | - |
hcfmusp.author.external | COPRERSKI, Bruno:Univ Fed Sao Paulo, Dept Morphol & Genet, Ctr Med Genet, BR-04020041 Sao Paulo, Brazil | - |
hcfmusp.author.external | ANDRADE, Carlos Eugenio Fernandez de:Santa Marcelina Hosp, Sao Paulo, Brazil | - |
hcfmusp.author.external | RASKIN, Salmo:Genetika, Genet Counseling & Genet Lab, Curitiba, Parana, Brazil | - |
hcfmusp.author.external | OLIVEIRA, Mariana Moyses:Univ Fed Sao Paulo, Dept Morphol & Genet, BR-04020041 Sao Paulo, Brazil | - |
hcfmusp.author.external | MELARAGNO, Maria Isabel:Univ Fed Sao Paulo, Dept Morphol & Genet, BR-04020041 Sao Paulo, Brazil | - |
hcfmusp.author.external | PEREZ, Ana Beatriz Alvarez:Univ Fed Sao Paulo, Dept Morphol & Genet, Ctr Med Genet, BR-04020041 Sao Paulo, Brazil | - |
hcfmusp.description.beginpage | 388 | - |
hcfmusp.description.endpage | 390 | - |
hcfmusp.description.issue | 5 | - |
hcfmusp.description.volume | 23 | - |
hcfmusp.origem | WOS | - |
hcfmusp.origem.id | 2-s2.0-84876096083 | - |
hcfmusp.origem.id | WOS:000318749400002 | - |
hcfmusp.publisher.city | OXFORD | - |
hcfmusp.publisher.country | ENGLAND | - |
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dc.description.index | MEDLINE | - |
hcfmusp.citation.scopus | 1 | - |
hcfmusp.scopus.lastupdate | 2024-04-12 | - |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - HC/ICHC Artigos e Materiais de Revistas Científicas - LIM/15 Artigos e Materiais de Revistas Científicas - LIM/45 |
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