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Article

[Recent Advances in α-dystroglycanopathy].

Brain and nerve = Shinkei kenkyu no shinpo - 1 Nov 2011

Kuga Atsushi, Kanagawa Motoi, Toda Tatsushi

Abstract excerpt

Fukuyama-type congenital muscular dystrophy (FCMD), muscle-eye-brain disease (MEB), and Walker-Warburg syndrome (WWS) are autosomal recessive disorders characterized by congenital muscular dystrophy with structural brain and eye abnormalities. Aberrant glycosylation of α-dystroglycan (α-DG) is a common pathomechanism of these disorders. In addition, genetic and glycobiological evidence has shown that abnormal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22068471

Genes

POMT1

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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[Recent Advances in α-dystroglycanopathy].PMID 22068471Read ↗

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POMT1 and POMT2 gene mutations result in 2 cases of alpha-dystroglycanopathy.Semantic proximity Read ↗

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