Homozygous mutations in VAMP 1 cause a presynaptic congenital myasthenic syndrome

@inproceedings{Salpietro2017HomozygousMI,
  title={Homozygous mutations in VAMP
1 cause a presynaptic congenital myasthenic syndrome},
  author={Vincenzo Salpietro and Weichun Lin and Andrea Delle Vedove and Markus Storbeck and Yun Liu and Stephanie Efthymiou and Andreea Manole and Sarah Wiethoff and Qiaohong Anne Ye and Anand K. Saggar and K Mcelreavey and Shyam S Krishnakumar and Matthew C Pitt and Oscar D. Bello and James E Rothman and Lina Basel‐Vanagaite and Monika Weisz Hubshman and Sharon Aharoni and Adnan Y. Manzur and Brunhilde Wirth and Henry Houlden},
  booktitle={Annals of neurology},
  year={2017}
}
We report 2 families with undiagnosed recessive presynaptic congenital myasthenic syndrome (CMS). Whole exome or genome sequencing identified segregating homozygous variants in VAMP1: c.51_64delAGGTGGGGGTCCCC in a Kuwaiti family and c.146G>C in an Israeli family. VAMP1 is crucial for vesicle fusion at presynaptic neuromuscular junction (NMJ). Electrodiagnostic examination showed severely low compound muscle action potentials and presynaptic impairment. We assessed the effect of the nonsense… CONTINUE READING
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Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene

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