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GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2)

Desikan, M; Scalco, RS; Manole, A; Gardiner, A; schapira, A; Lachmann, R; Houlden, H; ... Quinlivan, R; + view all (2018) GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2). Neuromuscular Disorders , 28 (4) pp. 346-349. 10.1016/j.nmd.2018.01.002. Green open access

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Abstract

An 84-year-old lady with slowly progressive limb and axial muscle weakness with onset in her teens was referred for genetic investigations. Targeted next generation sequencing (NGS) revealed a homozygous mutation GYG1 in exon5:c.487delG:p.D163fs, confirming the diagnosis of Polyglucosan Body Myopathy 2 (PGBM2). Retrospective review of muscle pathology revealed a florid vacuolar myopathy with histochemical and ultrastructural features consistent with a polyglucosan storage myopathy. No cardiac symptoms were reported. Our case is consistent with the core phenotype of GYG1-related PGBM2 apart from an early onset of weakness without cardiac symptoms. The presence of α-amylase resistant PAS-positive material in skeletal muscle biopsy of patients with slowly progressive limb girdle muscle weakness should prompt the search for GYG1 mutations. This case highlights the combined role of muscle pathology and NGS in the molecular resolution of undiagnosed patients with undiagnosed neuromuscular conditions.

Type: Article
Title: GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2)
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.nmd.2018.01.002
Publisher version: http://dx.doi.org/10.1016/j.nmd.2018.01.002
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: GYG1, Glycogen Storage Disease, polyglucosan body myopathy, progressive muscle weakness, limb girdle muscle weakness, Life expectancy
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10041304
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