Article
Ascertainment of myotonic dystrophy through cataract by selective screening.
Journal of medical genetics - 1 Jul 1995
Kidd A, Turnpenny P, Kelly K, Clark C, Church W, Hutchinson C, Dean J C, Haites N E
Abstract excerpt
Myotonic dystrophy (DM) almost always results from the expansion of an unstable (CTG)n repeat. The mutation can be detected directly. Affected patients with cataracts may have minimal additional signs of the disorder, but all are at risk of life threatening complications. We have studied the efficacy of detecting new families with myotonic dystrophy by selectively screening cataract patients. Selection criteria...
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