论文部分内容阅读
Lafora disease (LD) is the most common teenage onset progressive myoclonus epilepsy. It is caused by recessive mutations in the EPM2A or EPM2B genes. The authors describe a family with three affected members with no mutations in either gene. Linkage and haplotype analyses exclude both loci from causative involvement in this family. Therefore, a third LD locus is predicted. Its identification will be a crucial element in the understanding of the biochemical pathway underlying the generation of Lafora bo dies and LD.
The is common cause teenage onset progressive myoclonus epilepsy. It is caused by recessive mutations in the EPM2A or EPM2B genes. The authors describe a family with three affected members with no mutations in either gene. Linkage and haplotype analyzes both loci from causative involvement in this family. Thus, a third LD locus is the predicted of the biochemical pathway underlying the generation of Lafora bo dies and LD.