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Article

Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.

Journal of the neurological sciences - 15 Jul 2012

Saredi S, Ardissone A, Ruggieri A, Mottarelli E, Farina L, Rinaldi R, Silvestri E, Gandioli C, D'Arrigo S, Salerno F, Morandi L, Grammatico P, Pantaleoni C, Moroni I, Mora M

Abstract excerpt

Congenital muscular dystrophies due to defects in genes encoding proteins involved in α-dystroglycan (α-DG) glycosylation are a heterogeneous group of muscle disorders variably associated with central nervous system and eye abnormalities. One of the more severe is muscle-eye-brain disease (MEB). Mutations in genes coding for proven or putative glycosyltransferases (POMT1, POMT2, POMGnT1, fukutin, FKRP, and...

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Source

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Identifiers

PMID: 22554691
DOI: 10.1016/j.jns.2012.04.008
PMCID: PMC3405532

Genes

POMGNT1
DAG1
FKRP
POMT1
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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