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Article

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy.

American journal of human genetics - 4 Sept 2014

Herrmann David N, Horvath Rita, Sowden Janet E, Gonzalez Michael, Gonzales Michael, Sanchez-Mejias Avencia, Guan Zhuo, Whittaker Roger G, Almodovar Jorge L, Lane Maria, Bansagi Boglarka, Pyle Angela, Boczonadi Veronika, Lochmüller Hanns, Griffin Helen, Chinnery Patrick F, Lloyd Thomas E, Littleton J Troy, Zuchner Stephan

Abstract excerpt

Synaptotagmin 2 is a synaptic vesicle protein that functions as a calcium sensor for neurotransmission but has not been previously associated with human disease. Via whole-exome sequencing, we identified heterozygous missense mutations in the C2B calcium-binding domain of the gene encoding Synaptotagmin 2 in two multigenerational families presenting with peripheral motor neuron syndromes. An essential...

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PMID: 25192047
DOI: 10.1016/j.ajhg.2014.08.007
PMCID: PMC4157148

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Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy.PMID 25192047Read ↗

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