Article
Two is better than one: a case of homozygous myotonic dystrophy type 1.
American journal of medical genetics. Part A - 1 Jul 2013
Carroll Jillian M, Quaid Kimberly A, Stone Kristyne, Jones Renee, Schubert Frank, Griffith Christopher B
Abstract excerpt
Myotonic dystrophy type 1 is an autosomal dominant condition caused by a trinucleotide CTG repeat expansion in the 3' untranslated region of the dystrophia myotonica protein kinase gene. The phenotypic features of myopathic facies, generalized weakness, and myotonia are thought to be dependent on repeat number, with larger expansions generally leading to earlier and/or more severe disease. The vast majority of...
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