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Article

Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.

Annals of neurology - 1 Jul 2008

Selcen Duygu, Milone Margherita, Shen Xin-Ming, Harper C Michel, Stans Anthony A, Wieben Eric D, Engel Andrew G

Abstract excerpt

OBJECTIVE: Detailed analysis of phenotypic and molecular genetic aspects of Dok-7 myasthenia in 16 patients. METHODS: We assessed our patients by clinical and electromyographic studies, by intercostal muscle biopsies for in vitro microelectrode analysis of neuromuscular transmission and quantitative electron microscopy EM of 409 end plates (EPs), and by mutation analysis, and expression studies of the mutants....

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Identifiers

PMID: 18626973
DOI: 10.1002/ana.21408
PMCID: PMC2570015

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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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