We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Familial limb-girdle myasthenia with tubular aggregates.
- Authors
Furui, Eisuke; Fukushima, Koji; Sakashita, Toshio; Sakato, Shunichi; Matsubara, Shiro; Takamori, Masaharu; Furui, E; Fukushima, K; Sakashita, T; Sakato, S; Matsubara, S; Takamori, M
- Abstract
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.
- Subjects
SKELETAL muscle; MYASTHENIA gravis; ELECTRON microscopy; MYONEURAL junction
- Publication
Muscle & Nerve, 1997, Vol 20, Issue 5, p599
- ISSN
0148-639X
- Publication type
journal article
- DOI
10.1002/(SICI)1097-4598(199705)20:5<599::AID-MUS9>3.0.CO;2-4