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Lookup NU author(s): Professor Roger Whittaker, Dr Andrew Schaefer, Professor Bobby McFarlandORCiD, Professor Robert Taylor, Professor Mark Walker, Emeritus Professor Doug Turnbull
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The m.3243A>G mitochondrial DNA mutation is well known to be associated with deafness and diabetes, and patients presenting with these clinical features are routinely screened for this mutation. We wanted to assess whether this is a suitable screening strategy. We retrospectively reviewed the clinical notes of 242 patients who had attended a special mitochondrial clinic in the preceding 25-year period. Of the total 29 patients with mitochondrial disease presenting with deafness and diabetes, only 21 would have been correctly diagnosed by screening for the m.3243A>G mutation in blood or urine. Of the remaining eight patients, only six had other features suggestive of mitochondrial disease. We recommend that all patients with the combination of deafness and diabetes presenting to diabetes clinics be screened for the m.3243A>G mutation. In those patients in whom this test is negative, we recommend referral to a specialist neuromuscular clinic for further investigation.
Author(s): Whittaker RG, Schaefer AM, McFarland R, Taylor RW, Walker M, Turnbull DM
Publication type: Article
Publication status: Published
Journal: Diabetes Care
Year: 2007
Volume: 30
Issue: 9
Pages: 2238-2239
ISSN (print): 0149-5992
ISSN (electronic): 1935-5548
Publisher: American Diabetes Association
URL: http://dx.doi.org/10.2337/dc07-0466
DOI: 10.2337/dc07-0466
PubMed id: 17540956
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