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  • Molecular assay reagents intended to identify mutations in the Fukuyama-type congenital muscular dystrophy (fukutin) (FCMD) gene, located at chromosome 9q31-9q33, which encodes for fukutin, a secretory protein expressed in the extracellular matrix that interacts with muscle membranes and could be involved with brain development. Mutations at this locus have been identified in patients with Fukuyama-type congenital muscular dystrophy (FCMD); they are also associated with Walker-Warburg syndrome.
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