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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 03872naa a2200541 4500 | |
| 001 | oai:gup.ub.gu.se/289899 | |
| 003 | SwePub | |
| 008 | 240910s2019 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://gup.ub.gu.se/publication/2898992 URI |
| 024 | 7 | a https://doi.org/10.1016/j.nmd.2019.10.0022 DOI |
| 040 | a (SwePub)gu | |
| 041 | a eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Oldfors Hedberg, Carola,d 1969u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine4 aut0 (Swepub:gu)xnordc |
| 245 | 1 0 | a Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency |
| 264 | 1 | b Elsevier BV,c 2019 |
| 520 | a Glycogen storage disease XV is caused by variants in the glycogenin-1 gene, GYG1, and presents as a predominant skeletal myopathy or cardiomyopathy. We describe two patients with late-onset myopathy anti biallelic GYG1 variants. In patient 1, the novel c.144-2A>G splice acceptor variant and the novel frameshift variant c.631delG (p.Va1211Cysfs(star)30) were identified, and in patient 2, the previously described c.304G>C (p.Asp102His) and c.487deLG (p.Asp163Thrfs(star)5) variants were found. Protein analysis showed total absence of glycogenin-1 expression in patient 1, whereas in patient 2 there was reduced expression of glycogenin-1, with the residual protein being non-functional. Both patients showed glycogen and polyglucosan storage in their muscle fibers, as revealed by PAS staining and electron microscopy. Age at onset of the myopathy phenotype was 53 years and 70 years respectively, with the selective pattern of muscle involvement on MRI corroborating the pattern of weakness. Cardiac evaluation of patient 1 and 2 did not show any specific abnormalities linked to the glycogenin-1 deficiency. In patient 2, who was shown to express the p.Asp102His mutated glycogenin-1, cardiac evaluation was still normal at age 77 years. This contrasts with the association of the p.Asp102His variant in homozygosity with a severe cardiomyopathy in several cases with an onset age between 30 and 50 years. This finding might indicate that the level of p.Asp102His mutated glycogenin-1 determines if a patient will develop a cardiomyopathy. (C) 2019 Elsevier B.V. All rights reserved. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Klinisk laboratoriemedicin0 (SwePub)302232 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Clinical Laboratory Medicine0 (SwePub)302232 hsv//eng |
| 653 | a GYG1 | |
| 653 | a Polyglucosan | |
| 653 | a GSD XV | |
| 653 | a Myopathy | |
| 653 | a MRI | |
| 653 | a Glycogenin-1 deficiency | |
| 653 | a polyglucosan body myopathy | |
| 653 | a cardiomyopathy | |
| 653 | a mutation | |
| 653 | a disease | |
| 653 | a field | |
| 653 | a mri | |
| 653 | a Neurosciences & Neurology | |
| 700 | 1 | a De Ridder, W.4 aut |
| 700 | 1 | a Kalev, O.4 aut |
| 700 | 1 | a Bock, K.4 aut |
| 700 | 1 | a Visuttijai, K.4 aut |
| 700 | 1 | a Caravias, G.4 aut |
| 700 | 1 | a Topf, A.4 aut |
| 700 | 1 | a Straub, V.4 aut |
| 700 | 1 | a Baets, J.4 aut |
| 700 | 1 | a Oldfors, Anders,d 1951u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine4 aut0 (Swepub:gu)xoland |
| 710 | 2 | a Göteborgs universitetb Institutionen för biomedicin, avdelningen för laboratoriemedicin4 org |
| 773 | 0 | t Neuromuscular Disordersd : Elsevier BVg 29:12, s. 951-960q 29:12<951-960x 0960-8966 |
| 856 | 4 | u https://repository.uantwerpen.be/docman/irua/3a567e/165747_2020_06_01.pdf |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/289899 |
| 856 | 4 8 | u https://doi.org/10.1016/j.nmd.2019.10.002 |
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