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Article

GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.

Neurology - 23 Jul 2013

Selcen Duygu, Shen Xin-Ming, Milone Margherita, Brengman Joan, Ohno Kinji, Deymeer Feza, Finkel Richard, Rowin Julie, Engel Andrew G

Abstract excerpt

OBJECTIVE: To identify patients with GFPT1-related limb-girdle myasthenia and analyze phenotypic consequences of the mutations. METHODS: We performed genetic analysis, histochemical, immunoblot, and ultrastructural studies and in vitro electrophysiologic analysis of neuromuscular transmission. RESULTS: We identified 16 recessive mutations in GFPT1 in 11 patients, of which 12 are novel. Ten patients had slowly...

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Identifiers

PMID: 23794683
DOI: 10.1212/WNL.0b013e31829c5e9c
PMCID: PMC3772836

Genes

GFPT1

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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