Limb girdle muscular dystrophy due to mutations in POMT2.

doi:10.1136/jnnp-2017-317018

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Article

Limb girdle muscular dystrophy due to mutations in POMT2.

Journal of neurology, neurosurgery, and psychiatry - 1 May 2018

Østergaard Sofie Thurø, Johnson Katherine, Stojkovic Tanya, Krag Thomas, De Ridder Willem, De Jonghe Peter, Baets Jonathan, Claeys Kristl G, Fernández-Torrón Roberto, Phillips Lauren, Topf Ana, Colomer Jaume, Nafissi Shahriar, Jamal-Omidi Shirin, Bouchet-Seraphin Celine, Leturcq France, MacArthur Daniel G, Lek Monkol, Xu Liwen, Nelson Isabelle, Straub Volker, Vissing John

Abstract excerpt

BACKGROUND: Mutations in the gene coding for protein O-mannosyl-transferase 2 (POMT2) are known to cause severe congenital muscular dystrophy, and recently, mutations in POMT2 have also been linked to a milder limb-girdle muscular dystrophy (LGMD) phenotype, named LGMD type 2N (LGMD2N). Only four cases have been reported so far.ClinicalTrials.gov ID: NCT02759302 METHODS: We report 12 new cases of LGMD2N, aged...

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Identifiers

PMID: 29175898
DOI: 10.1136/jnnp-2017-317018

Genes

POMT2

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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