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A novel PLP1 deletion causing classic Pelizaeus-Merzbacher disease



Pelizaeus-Merzbacher disease and its allelic disorder, spastic paraplegia type 2 are X-linked recessive dysmyelinating disorders affecting the central nervous system. Pelizaeus-Merzbacher disease is caused in most cases by either duplication or point mutations in the PLP1 gene. Less frequently it has been reported the presence of large deletions of the gene. This disease has a wide clinical spectrum and its causing mutations act through different molecular mechanisms. The PLP1 gene is composed of seven exons encoding two proteins expressed mainly in oligodendrocytes, the proteolipidprotein (PLP) and its differently spliced isoform DM20.

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