Acta Med Port 2017 Aug 31;30(7-8):581-585. Epub 2017 Aug 31.
Serviço de Medicina Interna. Hospital Amato Lusitano. Castelo Branco. Portugal.
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Neurol Neurochir Pol 2014 23;48(2):150-3. Epub 2014 Jan 23.
Department of Clinical Neurology, Clinical Hospital of H. Święcicki by University of Medical Sciences, Poznań, Poland; Department of Clinical Neuroimmunology, Chair of Neurology, University of Medical Sciences, Poznań, Poland; Neuroimmunological Unit, Institute of Experimental and Clinical Medicine, Polish Academy of Sciences, Poznań, Poland.
The A3243G mutation is one of the most frequent mutations of mitochondrial DNA. The phenotypic expression of the A3243G mutation is variable and causes a wide range of syndromic and non-syndromic clinical disorders. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is the most frequent syndromic manifestation of the A3243G mutation. Read More
Ophthalmology 1999 Jun;106(6):1101-8
Department of Medicine, University of Birmingham & Birmingham Heartlands Hospital, England.
Objective: To study the association of retinal disease and the syndrome of maternally inherited diabetes and deafness caused by an A to G mutation in the tRNA leucine gene at base pair 3243 (A3243G) of the mitochondrial genome.
Design: Observational study of a genetically defined subject group.
Participants: Thirteen subjects with the mitochondrial DNA A3243G mutation from seven different pedigrees with maternally inherited diabetes and deafness. Read More
Intern Med 2000 Mar;39(3):249-52
Department of Internal Medicine, Saijo Central Hospital, Ehime.
In a 54-year-old woman with diabetes mellitus, hearing loss, muscle weakness and hypocalcemia, caused by idiopathic hypoparathyroidism, an A to G transition at the nucleotide position of 3243 (A3243G mutation) was found in the mitochondrial DNA from her leukocytes. Clinical features of diabetes mellitus and hearing loss in association with the A3243G mutation are compatible with a diagnosis of maternally inherited diabetes and deafness (MIDD). Although hypoparathyroidism is rarely seen in MIDD, we consider that hypoparathyroidism in this patient is a possible phenotype caused by the A3243G mutation of mitochondrial DNA. Read More
Med Clin (Barc) 1999 Jan;112(3):99-101
Unidad de Endocrinología, Hospital Universitari de Girona Doctor Josep Trueta.
The mitochondrial A3243G mutation of the tRNA(Leu) has been described in pedigrees with maternally inherited diabetes mellitus and deafness. Ten diabetic patients with sensorineural deafness were studied. Polymerase chain reaction and enzyme restriction analysis with Apa I were performed. Read More