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Article

Fukuyama‐type congenital muscular dystrophy (FCMD) and α‐dystroglycanopathy

1 Jun 2003

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, lissencephaly, and eye anomalies. Through positional cloning, we identified the gene for FCMD and MEB, which encodes the fukutin protein and the protein O-linked mannose beta1,...

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Identifiers

PMID: 12893968
DOI: 10.1111/j.1741-4520.2003.tb01033.x

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