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A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease.
Department of Medical Genetics, Indiana University School of Medicine, Indianapolis 46202-5251.
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 [PubMed - indexed for MEDLINE]
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Cited by 6 PubMed Central articles
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Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group.
Boespflug-Tanguy O, Mimault C, Melki J, Cavagna A, Giraud G, Pham Dinh D, Dastugue B, Dautigny A.
Am J Hum Genet. 1994 Sep; 55(3):461-7.
[Am J Hum Genet. 1994]
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Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred.
Pratt VM, Kiefer JR, Lähdetie J, Schleutker J, Hodes ME, Dlouhy SR.
Am J Hum Genet. 1993 Jun; 52(6):1053-6.
[Am J Hum Genet. 1993]
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Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease.
Raskind WH, Williams CA, Hudson LD, Bird TD.
Am J Hum Genet. 1991 Dec; 49(6):1355-60.
[Am J Hum Genet. 1991]
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