Article
Phenotypic clustering in MPZ mutations.
Brain : a journal of neurology - 1 Feb 2004
Shy Michael E, Jáni Agnes, Krajewski Karen, Grandis Marina, Lewis Richard A, Li Jun, Shy Rosemary R, Balsamo Janne, Lilien Jack, Garbern James Y, Kamholz John
Abstract excerpt
Myelin protein zero (MPZ) is a member of the immunoglobulin gene superfamily with single extracellular, transmembrane and cytoplasmic domains. Homotypic interactions between extracellular domains of MPZ adhere adjacent myelin wraps to each other. MPZ is also necessary for myelin compaction since mice which lack MPZ develop severe dysmyelinating neuropathies in which compaction is dramatically disrupted. MPZ...
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