Familial limb-girdle myasthenia with tubular aggregates

✍ Scribed by Eisuke Furui; Koji Fukushima; Toshio Sakashita; Shunichi Sakato; Shiro Matsubara; Masaharu Takamori

• Book ID: 101255773
• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 242 KB
• Volume: 20
• Category: Article
• ISSN: 0148-639X
• DOI: 10.1002/(sici)1097-4598(199705)20:5<599::aid-mus9>3.0.co;2-4

✦ Synopsis

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 revealed myopathic changes. Antiacetylcholine receptor antibodies were negative. Histologic examinations demonstrated myopathy with tubular aggregates in the muscle fibers while the neuromuscular junctions appeared normal. They were diagnosed with familial limb-girdle myasthenia. This is the first report of this syndrome with morphologic studies of neuromuscular junctions.