Proteolipoprotein Gene Analysis in 82 Patients with Sporadic Pelizaeus-Merzbacher Disease: Duplications, the Major Cause of the Disease, Originate More Frequently in Male Germ Cells, but Point Mutations Do Not

Pelizaeus-Merzbacher Disease (PMD) is an X-linked developmental defect of myelination affecting the central nervous system and segregating with the proteolipoprotein (PLP) locus. Investigating 82 strictly selected sporadic cases of PMD, we found PLP mutations in 77%; complete PLP-gene duplications w...

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Veröffentlicht in:	American journal of human genetics 1999-08, Vol.65 (2), p.360-369
Hauptverfasser:	Mimault, Corinne, Giraud, Geneviève, Courtois, Virginie, Cailloux, Fabrice, Boire, Jean Yves, Dastugue, Bernard, Boespflug-Tanguy, Odile
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Medical sciences Myelin disorder Neurology Parental origin of mutations Pelizaeus-Merzbacher disease Proteolipoprotein gene abnormalities X chromosome
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