| 1 | MTDM
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| High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A>G mitochondrial DNA mutation-positive subjects.
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| Frederiksen AL, Jeppesen TD, Vissing J, Schwartz M, Kyvik KO, Schmitz O, Poulsen PL, Andersen PH.
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| J Clin Endocrinol Metab 94(8):2872-9. Epub 2009 May 26.
2009
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| 2 | MTDM, MDDM
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| Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD).
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| Guillausseau PJ, Dubois-Laforgue D, Massin P, Laloi-Michelin M, Bellanne-Chantelot C, Gin H, Bertin E, Blickle JF, Bauduceau B, Bouhanick B, Cahen-Varsaux J, Casanova S, Charpentier G, Chedin P, Derrien C, Grimaldi A, Guerci B, Kaloustian E, Lorenzini F, Murat A, Olivier F, Paques M, Paquis-Flucklinger V, Tielmans A, Vincenot M, Vialettes B, Timsit J; GEDIAM, Mitochondrial Diabetes French Study Group.
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| Diabetes Metab 30(2):181-6. 2004
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| 3 | MDDM, MTDM
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| Hearing impairment in patients with 3243A-->G mtDNA mutation: phenotype and rate of progression.
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| Uimonen S, Moilanen JS, Sorri M, Hassinen IE, Majamaa K.
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| Hum Genet 108(4):284-9. 2001
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| 4 | MTDM
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| Mitochondrial DNA mutation at np 3243 in a family with maternally inherited diabetes mellitus.
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| Rigoli L, Salpietro DC, Caruso RA, Chiarenza A, Barberi I.
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| Acta Diabetol 36(3):163-167. 1999
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| 5 | MDDM, MTDM, MTPRD
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| Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation.
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| Smith PR, Bain SC, Good PA, Hattersley AT, Barnett AH, Gibson JM, Dodson PM.
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| Ophthalmology 106(6):1101-8. 1999
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| 6 | MDDM, MTDM
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| Macular dystrophy, diabetes, and deafness associated with a large mitochondrial DNA deletion.
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| Souied EH, Sales MJ, Soubrane G, Coscas G, Bigorie B, Kaplan J, Munnich A, Rotig A.
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| Am J Ophthalmol 125(1):100-3. 1998
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| 7 | MTDM
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| Diabetes associated with a novel 3264 mitochondrial tRNA(Leu)(UUR) mutation.
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| Suzuki Y, Suzuki S, Hinokio Y, Chiba M, Atsumi Y, Hosokawa K, Shimada A, Asahina T, Matsuoka K.
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| Diabetes Care 20(7):1138-40. 1997
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| 8 | MDDM, MTDM
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| Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: a family study of A3243G mitochondrial heteroplasmy.
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| Harrison TJ, Boles RG, Johnson DR, LeBlond C, Wong LJ.
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| Am J Ophthalmol 124(2):217-21. 1997
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| 9 | MDDM, MTDM
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| Optic neuropathy associated with mitochondrial tRNA Leu(UUR) A3243G mutation.
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| Hwang JM, Park HW, Kim SJ.
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| Ophthalmic Genet 18(2):101-5. 1997
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| 10 | MDDM, MTDM
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| Macular pattern dystrophy associated with a mutation of mitochondrial DNA.
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| Massin P, et al.
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| Am J Ophthalmol 120 : 247-248. 1995
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| 11 | INIDM, MT-TL1, MTDM
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| Mutation in mitochondrial tRNA Leu(UUR)gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness.
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| Van den Ouweland JMW, et al.
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| Nat Genet 1 : 368-371. 1992
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| 12 | INIDM, MT-TL1, MTDM
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| Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA.
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| Reardon W, et al.
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| Lancet 340 : 1376-1379. 1992
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