Instability of normal (CTG)n alleles in the DM kinase gene.
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- Record sourced from PubMed, PMID 9350827.
- Also identified by PMC identifier 1051101.
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Abstract
We report on a myotonic dystrophy (DM) family exhibiting instability of normal sized (CTG)n alleles in the DM kinase gene on the non-DM chromosome. At least two mutational events involving normal DM alleles must have occurred in this family; one was characterised as a 34-35 (CTG)n repeat mutation. These findings represent a dissociation between (CTG)n repeat instability and myotonic dystrophy. Furthermore, this family highlights genetic counselling issues relating to the pathogenicity of alleles at the upper end of the normal size range and the risk of further expansion into the disease range.
Medical subject headings
- Alleles
- Myotonic Dystrophy
- Protein Serine-Threonine Kinases
- Trinucleotide Repeats