Data from: Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome

Mallory C. Shields, Matthew R. Bowers, McKenzie M. Fulcer, Madelyn K. Bollig, Patrick J. Rock, Bryan R. Sutton, Alysia D. Vrailas-Mortimer, Hanns Lochm├╝ller, Roger G. Whittaker, Rita Horvath & Noreen E. Reist
During chemical transmission, the function of synaptic proteins must be coordinated to efficiently release neurotransmitter. Synaptotagmin 2, the Ca2+ sensor for fast, synchronized neurotransmitter release at the human neuromuscular junction, has recently been implicated in a dominantly inherited congenital myasthenic syndrome associated with a non-progressive motor neuropathy. In one family, a proline residue within the C2B Ca2+-binding pocket of synaptotagmin is replaced by a leucine. The functional significance of this residue has not been investigated...

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