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Am J Med Genet. 1991 Jan;38(1):136-9.

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

Author information

1
Department of Medical Genetics, Indiana University School of Medicine, Indianapolis 46202-5251.

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.

PMID:
1707231
DOI:
10.1002/ajmg.1320380129
[Indexed for MEDLINE]

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