Significance of recurrent mutations in the Myofibrillogenesis regulator 1 gene [1]

Archives of Neurology

Volumn 62, Issue 10, 2005, Pages 1641-

  Djarmati, Ana ^b   Svetel, Marina ^b   Momčilović, Dragana ^b   Kostić, Vladimir ^b   Klein, Christine ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ANAMNESIS; CASE REPORT; DISEASE SEVERITY; DYSKINESIA; DYSTONIA; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; LETTER; PHYSICAL EXAMINATION; PRIORITY JOURNAL; REGULATOR GENE;

ADOLESCENT; CHOREATIC DISORDERS; FEMALE; HUMANS; MUSCLE PROTEINS; MUTATION;

EID: 26444477625     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: None     Document Type: Letter

References (3)

1. Chen DH, Matsushita M, Rainier S, et al. Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. Arch Neurol. 2005;62:597-600.
2. Rainier S, Thomas D, Tokarz D, et al. Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch Neurol. 2004;61:1025-1029.
3. Lee HY, Xu Y, Huang Y, et al. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum Mol Genet. 2004;13:3161-3170.