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Article

Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome.

Annals of neurology - 1 Jan 1995

Toda T, Yoshioka M, Nakahori Y, Kanazawa I, Nakamura Y, Nakagome Y

Abstract excerpt

Both Fukuyama-type congenital muscular dystrophy (FCMD) and Walker-Warburg syndrome (WWS) are unusual genetic syndromes consisting of congenital muscular dystrophy and complex malformations of the brain and eye. It has been intensively discussed whether FCMD and WWS belong to the same disease entity or not. We analyzed a family in which 3 siblings were affected with either FCMD or WWS by using polymorphic...

Topics

Abnormalities, Multiple
Brain
Chromosomes, Human, Pair 9
DNA
Eye Abnormalities
Genetic Linkage
Genetic Markers
Genotype
Humans
Infant
Male
Muscular Dystrophies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Syndrome

Source

Identifiers

PMID: 7818265
DOI: 10.1002/ana.410370118

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7818265-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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