Article
Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.
Clinical genetics - 1 Mar 2014
Biancheri Roberta, Grossi Serena, Regis Stefano, Rossi Andrea, Corsolini Fabio, Rossi Daniela Paola, Cavalli Pietro, Severino Mariasavina, Filocamo Mirella
Abstract excerpt
Proteolipid protein 1 (PLP1) gene-related disorders due to mutations in the PLP1 include a wide spectrum of X-linked disorders ranging from severe connatal Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). Duplications, deletions or point mutations in coding and noncoding regions of the PLP1 gene may occur. We report the clinical, neuroradiologic and molecular findings in six patients from two...
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