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Article

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

Brain : a journal of neurology - 1 Mar 2013

Cossins Judith, Belaya Katsiaryna, Hicks Debbie, Salih Mustafa A, Finlayson Sarah, Carboni Nicola, Liu Wei Wei, Maxwell Susan, Zoltowska Katarzyna, Farsani Golara Torabi, Laval Steven, Seidhamed Mohammed Zain, Donnelly Peter, Bentley David, McGowan Simon J, Müller Juliane, Palace Jacqueline, Lochmüller Hanns, Beeson David

Abstract excerpt

Congenital myasthenic syndromes are a heterogeneous group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse. They are characterized by fatigable muscle weakness. We performed linkage analysis, whole-exome and whole-genome sequencing to determine the underlying defect in patients with an inherited limb-girdle pattern of myasthenic weakness. We identify ALG14 and ALG2...

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Source

Open in PubMed Open full text

Identifiers

PMID: 23404334
DOI: 10.1093/brain/awt010
PMCID: PMC3580273

Genes

ALG14
ALG2
DPAGT1
ALG13

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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