Home > D. Systemic pathology > Genetic and developmental anomalies > Genetic metabolic diseases > NHLRC1-associated Lafora disease
NHLRC1-associated Lafora disease
Thursday 30 June 2011
Etiology
germline mutations in the NHLRC1 (EPM2B) gene coding for malin at 6p22.3 (MIM.608072)
- NHLRC1-associated Lafora disease
- NHLRC1 (EPM2B) encodes the protein malin, an E3 ubiquitin ligase.
