Title: | Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations |
Journal : | Muscle & Nerve, 41, 2 |
Authors: | Fernandez C ; Halbert C ; de Paula AM ; Lacroze V ; Froissart R ; Figarella-Branger D ; Chabrol B ; Pellissier JF |
Material Type: | Article |
Publication Date: | 2010 |
Size: | p. 269-271 |
Languages: | English |
Keywords : | akinesia ; Andersen disease ; case studies ; exon ; genetic mutations ; glycogen ; glycogen branching enzyme ; histochemistry ; introns ; muscle biopsies ; neonatal hypotonia ; photographies ; skeletal muscle |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/pubmed/19813197?itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum&ordinalpos=7 |
Pubmed / DOI : | DOI : 10.1002/mus.21499 |