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Article

Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy.

European journal of human genetics : EJHG - 1 Apr 2014

Martinez Hugo R, Craigen William J, Ummat Monika, Adesina Adekunle M, Lotze Timothy E, Jefferies John L

Abstract excerpt

Dystroglycanopathies are a genetically heterogeneous subset of congenital muscular dystrophies that exhibit autosomal recessive inheritance and are characterized by abnormal glycosylation of α-dystroglycan. In particular, POMT2 (protein O-mannosyltransferase-2) mutations have been identified in congenital muscular dystrophy patients with a wide range of clinical involvement, ranging from the severe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24002165
DOI: 10.1038/ejhg.2013.165
PMCID: PMC3953896

Genes

POMT2

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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