Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy.

Gurgel-Giannetti, J; Bang, M-L; Reed, U; Marie, S; Zatz, M; Labeit, S; Vainzof, M

Gurgel-Giannetti, J; Bang, M-L; Reed, U; Marie, S; Zatz, M; Labeit, S; Vainzof, M.

Afiliación

Gurgel-Giannetti J; Center for the Study of the Human Genome, Biosciences Institute, University of São Paulo, R. do Matão 106, São Paulo SP-CEP 05508-900, Brazil.
Bang ML; Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil.
Reed U; European Molecular Biology Laboratory, Heidelberg, Germany.
Marie S; Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil.
Zatz M; Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil.
Labeit S; Center for the Study of the Human Genome, Biosciences Institute, University of São Paulo, R. do Matão 106, São Paulo SP-CEP 05508-900, Brazil.
Vainzof M; European Molecular Biology Laboratory, Heidelberg, Germany.

Muscle Nerve ; 25(5): 747-752, 2002 May.

Article en En | MEDLINE | ID: mdl-11994971

Asunto(s)

Proteínas Musculares/genética; Mutación/fisiología; Miopatías Nemalínicas/genética; Adolescente; Western Blotting; Niño; Preescolar; Femenino; Técnica del Anticuerpo Fluorescente; Humanos; Masculino; Fibras Musculares Esqueléticas/patología; Proteínas Musculares/metabolismo; Miopatías Nemalínicas/patología

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Miopatías Nemalínicas / Proteínas Musculares / Mutación Límite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Muscle Nerve Año: 2002 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Estados Unidos

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google