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A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family

✍ Scribed by Erik A. Sistermans,Sistermans de Wijs,Renŕ F. M. de Coo,B. A. van Oost…

Book ID: 118291700
Publisher: Springer
Year: 1996
Tongue: English
Weight: 33 KB
Volume: 97
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf02185767

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We report a G→A transition at nucleotide 431 of the proteolipid protein gene (PLP) results in a nonsense codon in a family with an unusual form of Pelizaeus-Merzbacher disease (PMD). The mutation, which creates a second AluI restriction site, results in a nonsense mutation in PLP. The clinical pictu