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Article

LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.

Human molecular genetics - 1 Apr 2014

Ohkawara Bisei, Cabrera-Serrano Macarena, Nakata Tomohiko, Milone Margherita, Asai Nobuyuki, Ito Kenyu, Ito Mikako, Masuda Akio, Ito Yasutomo, Engel Andrew G, Ohno Kinji

Abstract excerpt

Congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. Using Sanger and exome sequencing in a CMS patient, we identified two heteroallelic mutations, p.Glu1233Lys and p.Arg1277Hi...

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Source

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Identifiers

PMID: 24234652
DOI: 10.1093/hmg/ddt578
PMCID: PMC3943522

Genes

LRP4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24234652-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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