| pubmed-article:10435210 | pubmed:abstractText | Myotonic dystrophy (DM) is a genetic multisystemic disease with muscular, endocrine, ocular, cardiac and cognitive impairment. The molecular basis of the disease has been identified in an unstable base triplet (CTG)n repeat located in the 3' untranslated region of the miotonin protein-kinase (MT-PK) gene on the long arm of chromosome 19. Cognitive impairment could be a direct expression of this genetic alteration at the central nervous system (CNS) level rather than a consequence of the neuromuscular impairment. To explore this hypothesis, we tested a group of genetically diagnosed, adult onset DM, of their nonaffected relatives (NAR), of patients with spinal muscle atrophy (SMA), and of normal controls using the Wechsler Adult Intelligence Scale (WAIS). | lld:pubmed |
