title: Familial limb-girdle myasthenia with tubular aggregates.
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.
authors.affiliation: Department of Neurology, Kanazawa University Hospital, Japan.
authors.forename: E
authors.initials: E
authors.lastname: Furui
authors.forename: K
authors.initials: K
authors.lastname: Fukushima
authors.forename: T
authors.initials: T
authors.lastname: Sakashita
authors.forename: S
authors.initials: S
authors.lastname: Sakato
authors.forename: S
authors.initials: S
authors.lastname: Matsubara
authors.forename: M
authors.initials: M
authors.lastname: Takamori
mesh_terms: D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D008875:Middle Aged; D018485:Muscle Fibers, Skeletal / Q000648:ultrastructure*; D009157:Myasthenia Gravis / Q000235:genetics*; D009469:Neuromuscular Junction / Q000648:ultrastructure*