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. 1991 Jan;38(1):136-9.
doi: 10.1002/ajmg.1320380129.

A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease

V M Pratt  1 , J A Trofatter, A Schinzel, S R Dlouhy, P M Conneally, M E Hodes
Affiliations

A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease

V M Pratt et al. Am J Med Genet. 1991 Jan.

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.

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