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Familial limb‐girdle myasthenia with tubular aggregates
Author(s) -
Furui Eisuke,
Fukushima Koji,
Sakashita Toshio,
Sakato Shunichi,
Matsubara Shiro,
Takamori Masaharu
Publication year - 1997
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/(sici)1097-4598(199705)20:5<599::aid-mus9>3.0.co;2-4
Subject(s) - medicine , myasthenia gravis , anatomy , physical medicine and rehabilitation
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. © 1997 John Wiley & Sons, Inc. Muscle Nerve, 20, 599–603, 1997.