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Title: A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease. Author: Pratt VM, Trofatter JA, Schinzel A, Dlouhy SR, Conneally PM, Hodes ME. Journal: Am J Med Genet; 1991 Jan; 38(1):136-9. PubMed ID: 1707231. Abstract: A C-to-T transition in exon 4 of the PLP gene was found in 2 affected males and two obligate carriers in a German family with Pelizaeus-Merzbacher disease. The mutation, which causes loss of an HphI site and changes amino acid 155 from threonine to isoleucine, was absent from 108 normal chromosomes. There are 5 concordances and 1 discrepancy between these results and those obtained by magnetic resonance imaging in this family.[Abstract] [Full Text] [Related] [New Search]