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Scientific Commentary |
Light on limb-girdle myasthenia
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In the current issue of Brain, Slater et al. (2006)
describe their findings in eight patients in seven kinships suffering from limb-girdle myasthenia (LGM). All eight had progressive weakness in a proximal limb-girdle distribution that began in the first or second decade of life, a decremental EMG response on 3 Hz stimulation and a favourable response to anticholinesterase medications. The oculobulbar muscles were spared except for slight facial weakness and ptosis in some patients. None had short-term fatigability induced by exercise, and none had detectable anti-AChR antibodies. Thus, they differed from most myasthenic patients in whom oculobulbar involvement heralds the onset of the disease and who typically experience increased weakness after exercise. In addition to thoroughly describing the clinical features of their patients, Slater et al. also investigated each patient by intracellular microelectrode studies of neuromuscular transmission
Department of Neurology, Mayo Clinic Rochester, MN, USA
E-mail: age@mayo.edu
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