Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

Advancements in genetic testing now allow early identification of previously unresolved neuromuscular phenotypes. To illustrate this, we here present diagnoses of glycogen storage disease IV (GSD IV) in two patients with hypotonia and delayed development of gross motor skills. Patient 1 was diagnose...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Schene, Imre F., Korenke, Christoph G., Huidekoper, Hidde H., van der Pol, Ludo, Dooijes, Dennis, Breur, Johannes M. P. J., Biskup, Saskia, Fuchs, Sabine A., Visser, Gepke
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6336674/
https://ncbi.nlm.nih.gov/pubmed/30569318
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_148
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