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A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle
- Malfatti, E. (author)
- Barnerias, C. (author)
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- Oldfors Hedberg, Carola, 1969 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology
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- Gitiaux, C. (author)
- Benezit, A. (author)
- Carlier, R. Y. (author)
- Quijano-Roy, S. (author)
- Romero, N. B. (author)
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- (creator_code:org_t)
- Elsevier BV, 2016
- 2016
- English.
- In: Neuromuscular Disorders. - : Elsevier BV. - 0960-8966. ; 26:10, s. 681-687
- Journal article (peer-reviewed)
Abstract
Subject headings
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- 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 of the sartorius, gracilis, adductor longus and vastus intermedialis muscles. Polyglucosan bodies were identified in muscle, and GBE1 gene analysis revealed two pathogenic variants. We describe a novel neuromuscular GSD IV phenotype and confirm the importance of muscle morphological studies in early onset neuromuscular disorders. © 2016
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
Keyword
- Branching enzyme deficiency
- Glycogen storage disorders
- Glycogenosis type IV
- Metabolic myopathies
- Polyglucosan
Publication and Content Type
- ref (subject category)
- art (subject category)
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- Carlier, R. Y.
- Quijano-Roy, S.
- Romero, N. B.
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