Journalartikel
Autorenliste: Nolte, Dagmar; Landendinger, Melanie; Schmitt, Eberhard; Mueller, Ulrich
Jahr der Veröffentlichung: 2007
Seiten: 265-267
Zeitschrift: Movement Disorders
Bandnummer: 22
Heftnummer: 2
ISSN: 0885-3185
DOI Link: https://doi.org/10.1002/mds.21269
Verlag: Wiley
Abstract:
We describe a novel mutation in the gene coding for protein kinase C gamma (PRKCG) in patients of a German family affected with slowly progressive gait ataxia, dysarthria, and nystagmus. The G/T missense mutation occurred in exon 2 of PRKCG and results in a substitution of glycine by valine (G63V) in the evolutionarily highly conserved cysteine-rich region 1/C1 domain of PRKCG. Among the 20 mutations described to date, this is the first mutation located in exon 2 of PRKCG. (C) 2006 Movement Disorder Society.
Zitierstile
Harvard-Zitierstil: Nolte, D., Landendinger, M., Schmitt, E. and Mueller, U. (2007) Spinocerebellar ataxia 14:: Novel mutation in exon 2 of PRKCG in a German family, Movement Disorders, 22(2), pp. 265-267. https://doi.org/10.1002/mds.21269
APA-Zitierstil: Nolte, D., Landendinger, M., Schmitt, E., & Mueller, U. (2007). Spinocerebellar ataxia 14:: Novel mutation in exon 2 of PRKCG in a German family. Movement Disorders. 22(2), 265-267. https://doi.org/10.1002/mds.21269
Schlagwörter
ATAXIA TYPE-14; CEREBELLAR-ATAXIA; CHROMOSOME 19Q13.4-QTER; PKC-GAMMA; PRKCG; protein kinase C; PROTEIN-KINASE-C; SCA14; spinocerebellar ataxia
