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