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Article

Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

Archives of neurology - 1 Jan 2008

Clement Emma M, Godfrey Caroline, Tan Jenny, Brockington Martin, Torelli Silvia, Feng Lucy, Brown Susan C, Jimenez-Mallebrera Cecilia, Sewry Caroline A, Longman Cheryl, Mein Rachael, Abbs Steve, Vajsar Jiri, Schachter Harry, Muntoni Francesco

Abstract excerpt

BACKGROUND: Mutations in protein-O-mannose-beta1,2-N-acetylglucosaminyltransferase 1 (POMGnT1) have been found in muscle-eye-brain disease, a congenital muscular dystrophy with structural eye and brain defects and severe mental retardation. OBJECTIVE: To investigate whether mutations in POMGnT1 could be responsible for milder allelic variants of muscular dystrophy. DESIGN: Screening for mutations in POMGnT1....

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PMID: 18195152
DOI: 10.1001/archneurol.2007.2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.PMID 18195152Read ↗

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