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Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period

2009; Wiley; Volume: 54; Issue: 6 Linguagem: Inglês

10.1111/j.1365-2559.2009.03281.x

1365-2559

C. Jiménez-Mallebrera, A. Nascimento, V. Cusí, Joan Ramon Corbera, M. O. Rolland, Rosaline Froissart, Montse Olivé, Isidró Ferrer, J Colomer,

Genetics and Neurodevelopmental Disorders

HistopathologyVolume 54, Issue 6 p. 765-768 Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period Cecilia Jimenez-Mallebrera, Cecilia Jimenez-Mallebrera Unidad de Patología Neuromuscular, Servicio de NeurologíaSearch for more papers by this authorAndres Nascimento, Andres Nascimento Unidad de Patología Neuromuscular, Servicio de NeurologíaSearch for more papers by this authorVictoria Cusi, Victoria Cusi Departamento de Anatomia Patológica, Hospital Sant Joan de Déu, Barcelona, SpainSearch for more papers by this authorJoan Ramon Corbera, Joan Ramon Corbera Departamento de Anatomia Patológica, Hospital Sant Joan de Déu, Barcelona, SpainSearch for more papers by this authorMarie-Odile Rolland, Marie-Odile Rolland Maladies Héréditaires de Métabolisme, Centre de Biologie Est, Groupement Hospitalier Est, Bron, FranceSearch for more papers by this authorRosaline Froissart, Rosaline Froissart Maladies Héréditaires de Métabolisme, Centre de Biologie Est, Groupement Hospitalier Est, Bron, FranceSearch for more papers by this authorMontse Olivé, Montse Olivé Instituto de Neuropatología, Hospital de Bellvitge, Barcelona, Spain and CIBERNED (Centro de Investigación en Red de Enfermedades Neurodegenerativas)Search for more papers by this authorIsidro Ferrer, Isidro Ferrer Unidad de Patología Neuromuscular, Servicio de Neurología Maladies Héréditaires de Métabolisme, Centre de Biologie Est, Groupement Hospitalier Est, Bron, FranceSearch for more papers by this authorJaume Colomer, Jaume Colomer Unidad de Patología Neuromuscular, Servicio de NeurologíaSearch for more papers by this author Cecilia Jimenez-Mallebrera, Cecilia Jimenez-Mallebrera Unidad de Patología Neuromuscular, Servicio de NeurologíaSearch for more papers by this authorAndres Nascimento, Andres Nascimento Unidad de Patología Neuromuscular, Servicio de NeurologíaSearch for more papers by this authorVictoria Cusi, Victoria Cusi Departamento de Anatomia Patológica, Hospital Sant Joan de Déu, Barcelona, SpainSearch for more papers by this authorJoan Ramon Corbera, Joan Ramon Corbera Departamento de Anatomia Patológica, Hospital Sant Joan de Déu, Barcelona, SpainSearch for more papers by this authorMarie-Odile Rolland, Marie-Odile Rolland Maladies Héréditaires de Métabolisme, Centre de Biologie Est, Groupement Hospitalier Est, Bron, FranceSearch for more papers by this authorRosaline Froissart, Rosaline Froissart Maladies Héréditaires de Métabolisme, Centre de Biologie Est, Groupement Hospitalier Est, Bron, FranceSearch for more papers by this authorMontse Olivé, Montse Olivé Instituto de Neuropatología, Hospital de Bellvitge, Barcelona, Spain and CIBERNED (Centro de Investigación en Red de Enfermedades Neurodegenerativas)Search for more papers by this authorIsidro Ferrer, Isidro Ferrer Unidad de Patología Neuromuscular, Servicio de Neurología Maladies Héréditaires de Métabolisme, Centre de Biologie Est, Groupement Hospitalier Est, Bron, FranceSearch for more papers by this authorJaume Colomer, Jaume Colomer Unidad de Patología Neuromuscular, Servicio de NeurologíaSearch for more papers by this author First published: 24 April 2009 https://doi.org/10.1111/j.1365-2559.2009.03281.xCitations: 5Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Citing Literature Volume54, Issue6May 2009Pages 765-768 RelatedInformation