Novel synaptobrevin‐1 mutation causes fatal congenital myasthenic syndrome

@inproceedings{Shen2017NovelSM,
  title={Novel synaptobrevin‐1 mutation causes fatal congenital myasthenic syndrome},
  author={Xin‐Ming Shen and Rosana Herm{\'i}nia Scola and Paulo Jos{\'e} Lorenzoni and Cl{\'a}udia Suemi Kamoi Kay and Lineu C{\'e}sar Werneck and Joan M. Brengman and Duygu Selcen and Andrew Geddes Engel},
  booktitle={Annals of clinical and translational neurology},
  year={2017}
}
OBJECTIVE To identify the molecular basis and elucidate the pathogenesis of a fatal congenital myasthenic syndrome. METHODS We performed clinical electrophysiology studies, exome and Sanger sequencing, and analyzed functional consequences of the identified mutation. RESULTS Clinical electrophysiology studies of the patient revealed several-fold potentiation of the evoked muscle action potential by high frequency nerve stimulation pointing to a presynaptic defect. Exome sequencing identified… CONTINUE READING
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