Codon 101 of PRKCG, a preferential mutation site in SCA14 [3]

Movement Disorders

Volumn 22, Issue 12, 2007, Pages 1831-1832

  Nolte, Dagmar ^a   Klebe, Stephan ^b   Baron, Ralf ^b   Deuschl, Günther ^b   Müller, Ulrich ^a  

^a JUSTUS LIEBIG UNIVERSITY   (Germany)

^b UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

HISTIDINE; PROTEIN KINASE C GAMMA; TYROSINE;

ADULT; AMINO ACID SUBSTITUTION; CARDIOMYOPATHY; CASE REPORT; CAUSE OF DEATH; CLINICAL FEATURE; CODON; EXON; GENE MUTATION; GENE SEQUENCE; HAND TREMOR; HETEROZYGOSITY; HUMAN; LETTER; MALE; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPINOCEREBELLAR DEGENERATION;

CODON; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; HISTIDINE; HUMANS; MALE; MIDDLE AGED; MUTATION; PROTEIN KINASE C; SPINOCEREBELLAR ATAXIAS; TYROSINE;

EID: 35348976623     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.21654     Document Type: Letter

References (6)

1. Chen DH, Bird TD, Raskind WR. Spinocerebellar Ataxia Type 14. Gene Reviews 2007: Available at: http://www.geneclinics.org.
2. Brkanac Z, Bylenok L, Fernandez M, et al. A new dominant spinocerebellar ataxia linked to chromosome 19q13.4qter. Arch Neurol 2002;59:1291-1295.
3. Chen DH, Brkanac Z, Verlinde CL, et al. Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 2003;72:839-849.
4. Newton AC. Protein kinase C: structural and spatial regulation by phosphorylation, cofactors, and macromolecular interactions. Chem Rev 2001;101:2353-2364.
5. Nolte D, Landendinger M, Schmitt E, Müller U. Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family. Mov Disord 2007;22:265-268.
6. Alonso I, Costa C, Gomes A, et al. A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14. J Hum Genet 2005;50:523-529.