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

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

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Bibliographic Details
Published in:Histopathology Vol. 54; no. 6; pp. 765 - 768
Main Authors: Jimenez-Mallebrera, Cecilia, Nascimento, Andres, Cusi, Victoria, Corbera, Joan Ramon, Rolland, Marie-Odile, Froissart, Rosaline, Olivé, Montse, Ferrer, Isidro, Colomer, Jaume
Format: Journal Article
Language:English
Published: Oxford, UK Blackwell Publishing Ltd 01-05-2009
Subjects:
1,4-alpha-Glucan Branching Enzyme - genetics
Glycogen Storage Disease Type III - pathology
Humans
Infant
Male
Muscle Hypotonia - congenital
Muscle Weakness - diagnosis
Muscle Weakness - genetics
Quadriceps Muscle - pathology
Online Access:Get full text
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Description
Bibliography:ark:/67375/WNG-T43M5S3L-J
ArticleID:HIS3281
istex:837A5774F11BD16CB3D7D2ADD5FAEE4C0EA92652
ISSN:0309-0167
1365-2559
DOI:10.1111/j.1365-2559.2009.03281.x