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Article

Expanding the Genotypic Spectrum of POMGNT1-Related Muscle-Eye-Brain Disease: A Case Report.

Molecular genetics & genomic medicine - 1 Aug 2026

Pityrigkas Evripidis, Poulidou Vasiliki, Kalampokini Stefania, Liouta Eleni, Pepe Georgia, Spilioti Martha, Kimiskidis Vasilios K

Abstract excerpt

BACKGROUND: Muscle-Eye-Brain disease (MEB) is a rare autosomal recessive dystroglycanopathy caused by defective glycosylation of α-dystroglycan, leading to a multisystem disorder involving the central nervous system, skeletal muscle, and eyes. It represents an important cause of developmental and epileptic encephalopathy, with variable clinical severity and genetic heterogeneity, most commonly associated with...

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Identifiers

PMID: 42568275
DOI: 10.1002/mgg3.70256
PMCID: PMC13451836

Genes

POMGNT1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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