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Limb-girdle myasthenia with tubular aggregates associated with novel GFPT1 mutations

✍ Scribed by So-Young Huh; Hyang-Sook Kim; Ho-Jung Jang; Yeong-Eun Park; Dae-Seong Kim

Book ID
115560417
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
594 KB
Volume
46
Category
Article
ISSN
0148-639X

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πŸ“œ SIMILAR VOLUMES

Familial limb-girdle myasthenia with tub
Familial limb-girdle myasthenia with tubular aggregates
✍ Eisuke Furui; Koji Fukushima; Toshio Sakashita; Shunichi Sakato; Shiro Matsubara πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 242 KB

Two sisters developed slowly progressive limb-girdle weakness in their childhood. The weakness responded to acetylcholinesterase inhibitors. Repetitive nerve stimulation showed decremental responses and single-fiber electromyography demonstrated increased jitter and blocking. Needle electromyography