PELIZAEUS-MERZBACHER-DISEASE - A POINT MUTATION IN EXON-6 OF THE PROTEOLIPID PROTEIN (PLP) GENE

Authors
PRATT VM DLOUHY SR HODES ME
Citation
Vm. Pratt et al., PELIZAEUS-MERZBACHER-DISEASE - A POINT MUTATION IN EXON-6 OF THE PROTEOLIPID PROTEIN (PLP) GENE, Clinical genetics, 47(2), 1995, pp. 99-100
Citations number
6
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
47
Issue
2
Year of publication
1995
Pages
99 - 100
Database
ISI
SICI code
0009-9163(1995)47:2<99:P-APMI>2.0.ZU;2-T
Abstract
Pelizaeus-Merzbacher disease has been known since 1885. It is characte rized by severe dysmyelination of the central nervous system. We descr ibe a new mutation in exon 6 of the proteolipid protein gene in a 9-ye ar-old boy with severe connatal Pelizaeus-Merzbacher disease.