Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, FCMD

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, FCMD

Definition : 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.

Entry Terms : "Fukuyama congenital Muscular Dystrophy (FCMD) Gene Mutation Detection Reagents" , "Congenital Muscular Dystrophy Gene Mutation Detection Reagents" , "Muscular Dystrophy Fukuyama Type Gene Mutation Detection Reagents" , "Muscular Dystrophy Gene Mutation Detection Reagents" , "Muscular Dystrophy Diagnostic Reagents" , "FCMD Gene Mutation Detection Reagents" , "IVD Test Reagent/Kits, Molecular Assay, Inborn Disorder, Monogenic, Muscular Dystrophy" , "Muscular Dystrophy Determination Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, FCMD"

UMDC code : 24427

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