Rapidly progressive phenotype of Lafora disease associated with a novel NHLRC1 mutation.

Brackmann, Florian A

Rapidly progressive phenotype of Lafora disease associated with a novel NHLRC1 mutation. [electronic resource] - Pediatric neurology Jun 2011 - 475-7 p. digital

Publication Type: Case Reports; Journal Article

1873-5150

10.1016/j.pediatrneurol.2011.01.012 doi


Adolescent
Carrier Proteins--genetics
Disease Progression
Humans
Lafora Disease--genetics
Male
Mutation--genetics
Phenotype
Time Factors
Ubiquitin-Protein Ligases