Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNALeu A to G mutation11The authors have no proprietary interest in the development or marketing of any device or medications mentioned in the article or any competing device.
Author:
Publisher
Elsevier BV
Subject
Ophthalmology
Reference30 articles.
1. Sequence and organization of the human mitochondrial genome;Anderson;Nature,1981
2. Retinitis pigmentosa, external ophthalmoplegia, and complete heart block. Unusual syndrome with histologic study in one of two cases;Kearns;Arch Ophthalmol,1958
3. Pigmentary retinopathies;Dodson,1995
4. MELAS;Ciafaloni;Ann Neurol,1992
5. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies;Holt;Nature,1988
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