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Article

Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.

Neurology - 21 Jul 2009

Milone M, Shen X M, Selcen D, Ohno K, Brengman J, Iannaccone S T, Harper C M, Engel A G

Abstract excerpt

BACKGROUND: Pathogenic mutations in rapsyn result in endplate acetylcholine receptor (AChR) deficiency and are a common cause of postsynaptic congenital myasthenic syndromes. METHODS: Clinical, electrophysiologic, pathologic, and molecular studies were done in 39 patients. RESULTS: In all but one patient, the disease presented in the first 2 years of life. In 9 patients, the myasthenic symptoms included constant...

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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: 19620612
DOI: 10.1212/WNL.0b013e3181ae7cbc
PMCID: PMC2715575

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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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