Article
Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications.
Clinical genetics - 1 Mar 2008
Regis S, Biancheri R, Bertini E, Burlina A, Lualdi S, Bianco M G, Devescovi R, Rossi A, Uziel G, Filocamo M
Abstract excerpt
Pelizaeus-Merzbacher disease (PMD) is an X-linked myelination disorder most frequently caused by duplication of a genomic segment of variable length containing the PLP1 gene. We studied five PMD male patients affected by the classic PMD form carrying a PLP1 gene duplication. On the basis of clinical and neuroradiological features, two of the five patients appeared to be the most severely affected. In order to...
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