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

Daumerie, C; Lannoy, N; Squifflet, J P; Verellen, G; Verellen-Dumoulin, C · J Med Genet · 1994

case_report · Level V

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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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