Article
Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene.
Human molecular genetics - 1 Apr 1997
Nystuen A, Costeff H, Elpeleg O N, Apter N, Bonné-Tamir B, Mohrenweiser H, Haider N, Stone E M, Sheffield V C
Abstract excerpt
Iraqi-Jewish optic atrophy plus is an autosomal recessive condition characterized by infantile optic atrophy, an early onset movement disorder, and 3-methylglutaconic aciduria. Other features include spastic paraplegia, mild ataxia, mild cognitive deficiency and dysarthria. This disorder was identified in inbred Iraqi-Jewish kindreds in which relationships between most of the affected individuals were unknown. In...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.