Home > D. General 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.