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Article

Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia.

JAMA neurology - 1 Aug 2015

Selcen Duygu, Ohkawara Bisei, Shen Xin-Ming, McEvoy Kathleen, Ohno Kinji, Engel Andrew G

Abstract excerpt

IMPORTANCE: Congenital myasthenic syndromes (CMS) are heterogeneous disorders. Defining the phenotypic features, genetic basis, and pathomechanisms of a CMS is relevant to prognosis, genetic counseling, and therapy. OBJECTIVES: To characterize clinical, structural, electrophysiologic, and genetic features of a CMS and to search for optimal therapy. DESIGN, SETTINGS, AND PARTICIPANTS: Two sisters with CMS...

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Source

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Identifiers

PMID: 26052878
DOI: 10.1001/jamaneurol.2015.0853
PMCID: PMC4532561

Genes

LRP4

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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