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Muscle pathology an...
Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation
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Luo, S. S. (author)
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Zhu, W. H. (author)
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Yue, D. Y. (author)
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Lin, J. (author)
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Wang, Y. (author)
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Zhu, Z. (author)
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Qiu, W. J. (author)
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Lu, J. H. (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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- Oldfors, Anders, 1951 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology
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Zhao, C. B. (author)
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(creator_code:org_t)
- Elsevier BV, 2015
- 2015
- English.
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In: Neuromuscular Disorders. - : Elsevier BV. - 0960-8966. ; 25:10, s. 780-785
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https://doi.org/10.1...
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Abstract
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- We report a 46-year-old female with late-onset skeletal myopathy affecting proximal limb muscles. Muscle biopsy revealed a polyglucosan myopathy with PAS-positive inclusions predominantly in glycogen-depleted fibers, which were demonstrated as type I fibers by ATPase staining. Whole-body magnetic imaging disclosed that the paravertebral, scapular, and pelvic girdle muscles, the anterior compartment of the arms, and the posterior compartment of the thighs were preferentially involved. Genetic analysis revealed a homozygous novel mutation in exon 6 of the glycogenin-1 gene (GYG1) (c.634C>T, p.His212Tyr). Protein, analysis revealed normal levels of glycogenin-1 even before alpha-amylase digestion indicating preserved protein expression but impaired glucosylation. In vitro functional assay demonstrated that this variant impaired the autoglucosylating ability resulting in a non-functional protein. We report a glycogenin-1 related myopathy with a distinct histopathology and unique muscle imaging pattern. (C) 2015 Elsevier B.V. All rights reserved.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Keyword
- GYG1 gene
- Glycogenin-1
- Polyglucosan myopathy
- Whole-body imaging
- Late-onset myopathy
- storage myopathy
- deficiency
- metabolism
- disease
- Neurosciences & Neurology
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Luo, S. S.
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Zhu, W. H.
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Yue, D. Y.
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Lin, J.
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Wang, Y.
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Zhu, Z.
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show more...
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Qiu, W. J.
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Lu, J. H.
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Oldfors Hedberg, ...
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Oldfors, Anders, ...
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Zhao, C. B.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Neurosciences
- Articles in the publication
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Neuromuscular Di ...
- By the university
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University of Gothenburg