A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle
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- 作者：Edoardo Malfattia ; b ; c ; d ; Christine Barneriasd ; e ; f ; Carola Hedberg-Oldforsg ; Cyril Gitiauxd ; f ; h ; Audrey Benezitd ; e ; f ; Anders Oldforsg ; Robert-Yves Carlierd ; f ; i ; j ; Susana Quijano-Royd ; f ; j ; Norma B. Romeroa ; b ; c ; d ; nb.romero@institut-myologie.org" class="auth_mail" title="E-mail the corresponding author
- 关键词：Glycogen storage disorders ; Glycogenosis type IV ; Branching enzyme deficiency ; Metabolic myopathies ; Polyglucosan
- 刊名：Neuromuscular Disorders
- 出版年：2016
- 出版时间：October 2016
- 年：2016
- 卷：26
- 期：10
- 页码：681-687
- 全文大小：2012 K
文摘
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Arthrogryposis and spinal stiffness are associated with a neuromuscular form of glycogen storage disease type IV (GSD IV).
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Polyglucosan bodies were associated with autophagic material.
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A whole-body MRI pattern with sparing of the medial thigh compartment is described.