Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0040822 (
tremor
)
18,428
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We report on a family with an autosomal dominant cerebellar ataxia in which we identified a novel mutation in exon 5 of the PRKCG/
SCA14
gene that results in a Val138Glu substitution in the encoded protein PKCgamma. While most affected subjects displayed a late-onset uncomplicated form of spinocerebellar ataxia with occasional mild extrapyramidal features (such as postural
tremor
), one patient presented with a very mild nonprogressive ataxia since the age of 3 years and predominant multifocal myoclonus.
...
PMID:Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype. 1654 18
