A PLP splicing abnormality is associated with an unusual presentation of PMD

We report that a deletion of 19 base pairs (bp) in intron 3 of the proteolipid protein (PLP/DM20) gene causes a neurological disease characterized by mild developmental delay, followed by progressive decline of acquired motor and cognitive milestones. The clinical features are associated with mild d...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Annals of neurology 2002-10, Vol.52 (4), p.477-488
Hauptverfasser:	Hobson, Grace M., Huang, Zhong, Sperle, Karen, Stabley, Deborah L., Marks, Harold G., Cambi, Franca
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Base Sequence Biological and medical sciences Brain - pathology Chromosome Mapping COS Cells Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Female Gene Deletion Humans Introns - genetics Magnetic Resonance Imaging Medical sciences Molecular Sequence Data Myelin Proteolipid Protein - genetics Neurology Pelizaeus-Merzbacher Disease - genetics Pelizaeus-Merzbacher Disease - pathology Phenotype Regulatory Sequences, Nucleic Acid - genetics RNA Splicing Transfection
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!