Electromyographic findings in transthyretin (TTR)-related familial amyloid polyneuropathy (FAP).

@article{Montagna1996ElectromyographicFI,
  title={Electromyographic findings in transthyretin (TTR)-related familial amyloid polyneuropathy (FAP).},
  author={Pasquale Montagna and L P Marchello and Rosaria Plasmati and Alessandra Ferlini and Maria Cristina Patrosso and Fabrizio Salvi},
  journal={Electroencephalography and clinical neurophysiology},
  year={1996},
  volume={101 5},
  pages={423-30}
}
Affected members and asymptomatic relatives of 9 Italian families with transthyretin (TTR)-related hereditary amyloidosis carrying different TTR mutations (Met30, Pro36, Ala47, Ala49, Gln89) were followed up with repeated EMG investigations. In 3 patients, spontaneous myoclonic discharges with synkinesia were found in the facial muscles. EMG signs of chronic denervation with features of proximal neural involvement were also found in proximal limb muscles. Neuropathy worsened step-wise with… CONTINUE READING