Article
GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2).
Neuromuscular disorders : NMD - 1 Apr 2018
Desikan Mahalekshmi, Scalco Renata Siciliani, Manole Andreea, Gardiner Alice R, Schapira Anthony H, Lachmann Robin H, Houlden Henry, Holton Janice L, Phadke Rahul, Quinlivan Ros
Abstract excerpt
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...
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