PRDX5, peroxiredoxin 5, 25824

N. diseases: 153; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
0.010 GeneticVariation phenotype BEFREE Findings in our patients support that this form of spastic paraplesia is allelic to Pelizaeus-Merzbacher disease and that the mild clinical phenotype of this disorder may be related to a mutation within exon 3B of the PLP gene. 7488049 1995