High CTG repeat number in nodular thyroid tissue from a myotonic dystrophy patient

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Abstract

CTG triplet expansion was studied in lymphocytes and thyroid tissue in a patient with myotonic dystrophy (DM) and associated thyroid nodular disease. An approximately 7 fold larger amplification was found in abnormal thyroid tissue compared to lymphocytes, suggesting that anomalies in the putative DM kinase gene might contribute to thyroid dysfunction.

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Daumerie, C., Lannoy, N., Squifflet, J. P., Verellen, G., & Verellen-Dumoulin, C. (1994). High CTG repeat number in nodular thyroid tissue from a myotonic dystrophy patient. Journal of Medical Genetics, 31(11), 891–892. https://doi.org/10.1136/jmg.31.11.891

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