Article
Delineation of CTG repeats and clinical features in a Taiwanese myotonic dystrophy family.
Proceedings of the National Science Council, Republic of China. Part B, Life sciences - 1 Jan 2001
Jou S B, Lin H M, Pan H, Chiu Y L, Li S Y, Lee C C, Hsiao K M
Abstract excerpt
Myotonic dystrophy (DM) is an inherited, autosomal dominant muscular disease which is primarily caused by a CTG trinucleotide expansion mutation on chromosome 19q13.3. The size of this trinucleotide repeat is related both to the age of onset and to the severity of the clinical manifestation. This disease is very rare in Taiwan, and clinical and genetic study on DM has not yet been documented in this area. Here,...
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