Article
[From gene to disease; mutation in mitochondrial DNA and maternally inherited diabetes mellitus with deafness (MIDD)].
Nederlands tijdschrift voor geneeskunde - 16 Jun 2001
Maassen J A, van den Ouweland J M, Losekoot M, Lemkes H H
Abstract excerpt
MIDD is a maternally inherited disorder with diabetes and impaired hearing due to a reduced perception of high tones. The disorder is caused by an A to G mutation at position 3243 in mitochondrial DNA. Approximately 1.3% of insulin-dependent diabetic patients in the Netherlands has this mutation. The main defect in these patients seems to be a reduced secretion of insulin by the pancreas in response to glucose...
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