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Article

Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy.

Brain & development - 1 Jun 2009

Yoshioka Mieko

Abstract excerpt

Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), and muscle-eye-brain (MEB) disease are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, cobblestone lissencephaly, and eye anomalies. Among them, WWS is the most severe syndrome. Causative genes for FCMD (Fukutin), WWS (POMT1), and MEB (POMGnT1) have been identified. The vast majority...

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Source

Identifiers

PMID: 18834683
DOI: 10.1016/j.braindev.2008.07.012

Genes

POMT1

Provenance

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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