Article
Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease.
Neurogenetics - 1 Oct 2009
Traoré M, Landouré G, Motley W, Sangaré M, Meilleur K, Coulibaly S, Traoré S, Niaré B, Mochel F, La Pean A, Vortmeyer A, Mani H, Fischbeck K H
Abstract excerpt
We studied a Malian family with parental consanguinity and two of eight siblings affected with late-childhood-onset progressive myoclonus epilepsy and cognitive decline, consistent with the diagnosis of Lafora disease. Genetic analysis showed a novel homozygous single-nucleotide variant in the NHLRC1 gene, c.560A>C, producing the missense change H187P. The changed amino acid is highly conserved, and the mutation...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.