Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation

作者：Luo, Sushan; Zhu, Wenhua; Yue, Dongyue; Lin, Jie; Wang, Yin; Zhu, Zhen; Qiu, Wenjuan; Lu, Jiahong; Hedberg-Oldfors, Carola; Oldfors, Anders^*; Zhao, Chongbo

来源：Neuromuscular Disorders, 2015, 25(10): 780-785.

DOI：10.1016/j.nmd.2015.07.007

• GYG1 gene
• Glycogenin-1
• Polyglucosan myopathy
• Whole-body imaging
• Late-onset myopathy

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.

• 出版日期2015-10
• 单位复旦大学; 上海交通大学