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Unmasking Compound Heterozygosity in GYG1 Myopathy: Diagnostic Insights From RNA-Seq and Long-Read Genomics.

Clinical genetics - 1 Aug 2026

Panwar Deepak, Farris Joseph D, Schmidt Danielle, Blake Emily J, Tan Jia W, Naddaf Elie, Sonnen Joshua, Vairo Filippo Pinto E, Lambert Laura J, Wierenga Klaas J, Muthusamy Karthik, Klee Eric W

Abstract excerpt

Polyglucosan body myopathy type 2 (PGBM2; OMIM #616199) is an autosomal recessive myopathy caused by biallelic variants in GYG1, which encodes glycogenin-1. It is characterized by progressive muscle weakness and PAS-positive, diastase-resistant polyglucosan inclusions on muscle biopsy. We report a 64-year-old woman who developed progressive proximal weakness beginning in her early 50s, with polyglucosan bodies...

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PMID: 42023422
DOI: 10.1111/cge.70173

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GYG1

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