. . . . . . . "[We present a patient with c.593G>A substitution in the exon 4 of the PLP1 gene causing a novel missense mutation p.Gly198Asp, finally diagnosed as PMD but showing an atypical MRI picture.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:15:29+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .