Lesca, Gaetan
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease. [electronic resource]
- Epilepsia Sep 2010
- 1691-8 p. digital
Publication Type: Comparative Study; Journal Article
1528-1167
10.1111/j.1528-1167.2010.02692.x doi
Adolescent
Adult
Biopsy
Carrier Proteins--genetics
Exons--genetics
Female
Genetic Markers--genetics
Humans
Lafora Disease--diagnosis
Male
Microsatellite Repeats--genetics
Mutation--genetics
Pedigree
Protein Tyrosine Phosphatases, Non-Receptor--genetics
Skin--pathology
Ubiquitin-Protein Ligases