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Article

Uniparental disomy unveils a novel recessive mutation in POMT2.

Neuromuscular disorders : NMD - 1 Jul 2018

Brun Brianna N, Willer Tobias, Darbro Benjamin W, Gonorazky Hernan D, Naumenko Sergey, Dowling James J, Campbell Kevin P, Moore Steven A, Mathews Katherine D

Abstract excerpt

Mutations in POMT2 are most commonly associated with Walker-Warburg syndrome and Muscle-Eye-Brain disease, but can also cause limb girdle muscular dystrophy (LGMD2N). We report a case of LGMD due to a novel mutation in POMT2 unmasked by uniparental isodisomy. The patient experienced proximal muscle weakness from three years of age with minimal progression. She developed progressive contractures and underwent...

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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: 29759639
DOI: 10.1016/j.nmd.2018.04.003
PMCID: PMC6115279

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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