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Article

Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome.

Neurology - 1 Dec 2015

Whittaker Roger G, Herrmann David N, Bansagi Boglarka, Hasan Bashar Awwad Shiekh, Lofra Robert Muni, Logigian Eric L, Sowden Janet E, Almodovar Jorge L, Littleton J Troy, Zuchner Stephan, Horvath Rita, Lochmüller Hanns

Abstract excerpt

OBJECTIVES: To describe the clinical and electrophysiologic features of synaptotagmin II (SYT2) mutations, a novel neuromuscular syndrome characterized by foot deformities and fatigable ocular and lower limb weakness, and the response to modulators of acetylcholine release. METHODS: We performed detailed clinical and neurophysiologic assessment in 2 multigenerational families with dominant SYT2 mutations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26519543
DOI: 10.1212/WNL.0000000000002185
PMCID: PMC4664120

Genes

SYT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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