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