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Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases.
Moreno, Cristiane Araújo Martins; Estephan, Eduardo de Paula; Fappi, Alan; Monges, Soledad; Lubieniecki, Fabiana; Lopes Abath Neto, Osório; Reed, Umbertina Conti; Donkervoort, Sandra; Harms, Matthew B; Bonnemann, Carsten; Zanoteli, Edmar.
Afiliación
  • Moreno CAM; Division of Neuromuscular Diseases from Neurology Department. Columbia University. New York, USA.
  • Estephan EP; Department of Neurology, Faculdade de Medicina (FMUSP), Universidade de São Paulo, Av. Dr. Enéas de Carvalho Aguiar 255, 5° andar, sala 5131, Cerqueira Cesar, 05403-900 São Paulo, Brazil.
  • Fappi A; Department of Neurology, Faculdade de Medicina (FMUSP), Universidade de São Paulo, Av. Dr. Enéas de Carvalho Aguiar 255, 5° andar, sala 5131, Cerqueira Cesar, 05403-900 São Paulo, Brazil.
  • Monges S; Neurology Department, Hospital de Pediatria J.Garrahan. Buenos Aires, Argentina.
  • Lubieniecki F; Pathology Department, Hospital de Pediatria J.Garrahan. Buenos Aires, Argentina.
  • Lopes Abath Neto O; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, USA.
  • Reed UC; Department of Neurology, Faculdade de Medicina (FMUSP), Universidade de São Paulo, Av. Dr. Enéas de Carvalho Aguiar 255, 5° andar, sala 5131, Cerqueira Cesar, 05403-900 São Paulo, Brazil.
  • Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, USA.
  • Harms MB; Division of Neuromuscular Diseases from Neurology Department. Columbia University. New York, USA.
  • Bonnemann C; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, USA.
  • Zanoteli E; Department of Neurology, Faculdade de Medicina (FMUSP), Universidade de São Paulo, Av. Dr. Enéas de Carvalho Aguiar 255, 5° andar, sala 5131, Cerqueira Cesar, 05403-900 São Paulo, Brazil. Electronic address: edmar.zanoteli@usp.br.
Neuromuscul Disord ; 30(1): 54-58, 2020 01.
Article en En | MEDLINE | ID: mdl-31866162
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Tropomiosina / Miopatías Estructurales Congénitas Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Female / Humans Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Tropomiosina / Miopatías Estructurales Congénitas Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Female / Humans Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos