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Article

Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations.

European journal of human genetics : EJHG - 1 Feb 2017

Lam Ching-Wan, Wong Ka-Sing, Leung Ho-Wan, Law Chun-Yiu

Abstract excerpt

Though dysfunction of neuromuscular junction (NMJ) is associated with congenital myasthenic syndrome (CMS), the proteins involved in neuromuscular transmission have not been completely identified. In this study, we aimed to identify a novel CMS gene in a consanguineous family with limb-girdle type CMS. Homozygosity mapping of the novel CMS gene was performed using high-density single-nucleotide polymorphism...

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Identifiers

PMID: 27966543
DOI: 10.1038/ejhg.2016.162
PMCID: PMC5255960

Genes

RAPSN

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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