Article
A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle.
Neuromuscular disorders : NMD - 1 Oct 2016
Malfatti Edoardo, Barnerias Christine, Hedberg-Oldfors Carola, Gitiaux Cyril, Benezit Audrey, Oldfors Anders, Carlier Robert-Yves, Quijano-Roy Susana, Romero Norma B
Abstract excerpt
Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder causing polyglucosan storage in various tissues. Neuromuscular forms present with fetal akinesia deformation sequence, lethal myopathy, or mild hypotonia and weakness. A 3-year-old boy presented with arthrogryposis, motor developmental delay, weakness, and rigid spine. Whole body MRI revealed fibroadipose muscle replacement but sparing...
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