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Article

Walker-Warburg syndrome is genetically distinct from Fukuyama type congenital muscular dystrophy.

Journal of the neurological sciences - 15 Aug 2000

Chadani Y, Kondoh T, Kamimura N, Matsumoto T, Matsuzaka T, Kobayashi O, Kondo-Iida E, Kobayashi K, Nonaka I, Toda T

Abstract excerpt

A female patient who fulfilled the diagnostic criteria of Walker-Warburg syndrome had muscle biopsy finding of muscular dystrophy. There was normal expression of merosin (laminin alpha2 chain) and dystrophin and only slightly reduced dystrophin-associated glycoprotein expression. On genetic analysis, she had no specific haplotype, the common mutation of 3kb insertion, or point mutations in the Fukuyama-type...

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Identifiers

PMID: 10980312
DOI: 10.1016/s0022-510x(00)00328-2

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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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