## Abstract A non‐Jewish patient is described who had adult polyglucosan body disease (APBD) and glycogen branching enzyme (GBE) deficiency without __GBE__ mutation. A heterozygous polymorphism (Val160Ile) was found, and also discovered in 1 of 50 normal individuals. Magnetic resonance imaging demo
✦ LIBER ✦
Adult polyglucosan body disease: Clinical and nerve biopsy findings in two cases
✍ Scribed by Dr A. J. M. Vos; E. M. G. Joosten; A. A. W. M. Gabreëls-Festen
- Publisher
- John Wiley and Sons
- Year
- 1983
- Tongue
- English
- Weight
- 509 KB
- Volume
- 13
- Category
- Article
- ISSN
- 0364-5134
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## Abstract We describe 2 unrelated patients with adult polyglucosan body disease (APBD) diagnosed by sural nerve biopsy. Both patients were offspring of consanguineous marriages. They presented clinically with late onset pyramidal tetraparesis, micturition difficulties, peripheral neuropathy, and