Polyalanine dystrophy

Twelve or more additional triplet repeat diseases, many with neurological symptoms, have been identified (Table 26-4).405 407a These involve other trinucleotide repeats 5 -(GCG) , 5 -(CTG) , 5 -(GAA) , and 5 -(CAG) . In synpolydactyly, an inherited developmental defect causing malformation of hands and feet, an expansion of a GCG trinucleotide occurs within the gene HoxD 13. This results in incorporation of a polyalanine tract near the N terminus of the protein.408 Myotonic dystrophy DM1 (Box 19-A) results from expansion of CTG to 6 kbp or more within the untranslated 3 region of a gene for cAMP-dependent protein kinase.405 The mRNA transcripts accumulate... [Pg.1516]

Brais B (2003) Oculopharyngeal muscular dystrophy a late-onset polyalanine disease. Cytogenet Genome Res 100 252-260... [Pg.61]

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