Article
PLP1 gene analysis in 88 patients with leukodystrophy.
Clinical genetics - 1 Dec 2013
Martínez-Montero P, Muñoz-Calero M, Vallespín E, Campistol J, Martorell L, Ruiz-Falcó M J, Santana A, Pons R, Dinopoulos A, Sierra C, Nevado J, Molano J
Abstract excerpt
Pelizaeus-Merzbacher disease (PMD) is caused in most cases by either duplications or point mutations in the PLP1 gene. This disease, a dysmyelinating disorder affecting mainly the central nervous system, has a wide clinical spectrum and its causing mutations act through different molecular mechanisms. Eighty-eight male patients with leukodystrophy were studied. PLP1 gene analysis was performed by the Multiplex...
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