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3. [A case of mitochondrial encephalomyopathy showing ophthalmoplegia, diabetes mellitus and hearing loss associated with the A3243G mutation of mitochondrial DNA]. Hoshino S; Tamaoka A; Ohkoshi N; Shoji S; Goto Y Rinsho Shinkeigaku; 1997 Apr; 37(4):326-30. PubMed ID: 9248343 [TBL] [Abstract][Full Text] [Related]
4. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome. Sproule DM; Kaufmann P Ann N Y Acad Sci; 2008 Oct; 1142():133-58. PubMed ID: 18990125 [TBL] [Abstract][Full Text] [Related]
5. [Phenotype heterogeneity associated with mitochondrial DNA A3243G mutation]. Zhang Y; Wang ZX; Niu SL; Xu YF; Pei P; Yuan Y; Yang YL; Qi Y Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2005 Feb; 27(1):77-80. PubMed ID: 15782498 [TBL] [Abstract][Full Text] [Related]
6. Point mutations of muscle mitochondrial DNA from patients with mitochondrial encephalomyopathies. Song D; Zhang Y; Shi J; Lü Q; Chen J; Zhang H; Zhang W; Wang H; Cai Q Chin Med J (Engl); 2001 Dec; 114(12):1273-5. PubMed ID: 11793851 [TBL] [Abstract][Full Text] [Related]
7. Skeletal muscle gene expression profiling in mitochondrial disorders. Crimi M; Bordoni A; Menozzi G; Riva L; Fortunato F; Galbiati S; Del Bo R; Pozzoli U; Bresolin N; Comi GP FASEB J; 2005 May; 19(7):866-8. PubMed ID: 15728662 [TBL] [Abstract][Full Text] [Related]
8. [Clinical characterization of diabetes mellitus in the families with mitochondrial encephalomyopathies]. Suzuki S Nihon Rinsho; 1994 Oct; 52(10):2606-10. PubMed ID: 7527090 [TBL] [Abstract][Full Text] [Related]
9. ["MELAS" (A3243G) mutation of mitochondrial DNA: a study of the relationships between the clinical phenotype in 19 patients and morphological and molecular data]. Laforêt P; Ziegler F; Sternberg D; Rouche A; Frachon P; Fardeau M; Eymard B; Lombès A Rev Neurol (Paris); 2000 Dec; 156(12):1136-47. PubMed ID: 11139730 [TBL] [Abstract][Full Text] [Related]
10. [Clinical application of molecular diagnosis for mitochondrial encephalomyopathies]. Goto Y Hokkaido Igaku Zasshi; 1992 Jan; 67(1):27-39. PubMed ID: 1559659 [TBL] [Abstract][Full Text] [Related]
11. Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNA(Leu) (UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies. Jean-Francois MJ; Lertrit P; Berkovic SF; Crimmins D; Morris J; Marzuki S; Byrne E Aust N Z J Med; 1994 Apr; 24(2):188-93. PubMed ID: 8042948 [TBL] [Abstract][Full Text] [Related]
12. The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study. Hammans SR; Sweeney MG; Hanna MG; Brockington M; Morgan-Hughes JA; Harding AE Brain; 1995 Jun; 118 ( Pt 3)():721-34. PubMed ID: 7600089 [TBL] [Abstract][Full Text] [Related]
13. [Mitochondrial encephalomyopathies: pleomorphism of the mitochondrial DNA mutations and clinical features]. Sato T; Hirawake H Nihon Rinsho; 1993 Sep; 51(9):2364-72. PubMed ID: 8411714 [TBL] [Abstract][Full Text] [Related]
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19. [Genetic diseases of the mitochondrial DNA in humans]. Solano A; Playán A; López-Pérez MJ; Montoya J Salud Publica Mex; 2001; 43(2):151-61. PubMed ID: 11381844 [TBL] [Abstract][Full Text] [Related]
20. Fundus changes in patients with the mitochondrial DNA point mutation at position 3243. Bonte C; Leys A; Matthijs G; Missotten L Bull Soc Belge Ophtalmol; 1996; 261():9-12. PubMed ID: 9009357 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]