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Article

Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients.

Muscle & nerve - 1 Apr 2011

Alseth Espen Homleid, Maniaol Angelina Hatlø, Elsais Ahmed, Nakkestad Hanne Linda, Tallaksen Chantal, Gilhus Nils Erik, Skeie Geir Olve

Abstract excerpt

INTRODUCTION: Myasthenia gravis (MG) is an autoimmune disease. Patients without detectable antibodies against the nicotinic acetylcholine receptor or the muscle-specific tyrosine kinase are referred to as seronegative MG (SNMG). Because late-onset congenital myasthenic syndromes (CMSs) due to RAPSN or DOK7 mutations may be mistaken for SNMG, we investigated their frequency in a nationwide SNMG cohort. METHODS: We...

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Source

Identifiers

PMID: 21305573
DOI: 10.1002/mus.21919

Genes

DOK7
RAPSN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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