PubMed

Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome.

Choo-Kang AT, Lynn S, Taylor GA, Daly ME, Sihota SS, Wardell TM, Chinnery PF, Turnbull DM, Walker M.

Diabetes. 2002 Jul;51(7):2317-20.PMID: 12086967 [PubMed - indexed for MEDLINE]Related articlesFree article

Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.

van den Ouweland JM, Lemkes HH, Trembath RC, Ross R, Velho G, Cohen D, Froguel P, Maassen JA.

Diabetes. 1994 Jun;43(6):746-51.PMID: 7910800 [PubMed - indexed for MEDLINE]Related articles

Detection of low levels of the mitochondrial tRNALeu(UUR) 3243A>G mutation in blood derived from patients with diabetes.

Procaccio V, Neckelmann N, Paquis-Flucklinger V, Bannwarth S, Jimenez R, Davila A, Poole JC, Wallace DC.

Mol Diagn Ther. 2006;10(6):381-9.PMID: 17154655 [PubMed - indexed for MEDLINE]Related articles

Functional and morphological abnormalities of mitochondria harbouring the tRNA(Leu)(UUR) mutation in mitochondrial DNA derived from patients with maternally inherited diabetes and deafness (MIDD) and progressive kidney disease.

van den Ouweland JM, Maechler P, Wollheim CB, Attardi G, Maassen JA.

Diabetologia. 1999 Apr;42(4):485-92.PMID: 10230654 [PubMed - indexed for MEDLINE]Related articles

A gel electrophoresis method for detection of mitochondrial DNA mutation (3243 tRNA(Leu (UUR))) applied to a Norwegian family with diabetes mellitus and hearing loss.

Akbari M, Skjelbred C, Følling I, Sagen J, Krokan HE.

Scand J Clin Lab Invest. 2004 Apr;64(2):86-92.PMID: 15115244 [PubMed - indexed for MEDLINE]Related articles

Mutation in mitochondrial tRNA(Leu(UUR)) gene associated with progressive kidney disease.

Jansen JJ, Maassen JA, van der Woude FJ, Lemmink HA, van den Ouweland JM, t' Hart LM, Smeets HJ, Bruijn JA, Lemkes HH.

J Am Soc Nephrol. 1997 Jul;8(7):1118-24.PMID: 9219161 [PubMed - indexed for MEDLINE]Related articlesFree article

MtDNA mutations in maternally inherited diabetes: presence of the 3397 ND1 mutation previously associated with Alzheimer's and Parkinson's disease.

Cavelier L, Erikson I, Tammi M, Jalonen P, Lindholm E, Jazin E, Smith P, Luthman H, Gyllensten U.

Hereditas. 2001;135(1):65-70.PMID: 12035616 [PubMed - indexed for MEDLINE]Related articles

Maternally transmitted diabetes mellitus associated with the mitochondrial tRNA(Leu(UUR)) A3243G mutation in a four-generation Han Chinese family.

Lu J, Wang D, Li R, Li W, Ji J, Zhao J, Ye W, Yang L, Qian Y, Zhu Y, Guan MX.

Biochem Biophys Res Commun. 2006 Sep 15;348(1):115-9. Epub 2006 Jul 13.PMID: 16876129 [PubMed - indexed for MEDLINE]Related articles

Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation.

Smith PR, Bain SC, Good PA, Hattersley AT, Barnett AH, Gibson JM, Dodson PM.

Ophthalmology. 1999 Jun;106(6):1101-8.PMID: 10366077 [PubMed - indexed for MEDLINE]Related articles

Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography.

van Den Bosch BJ, de Coo RF, Scholte HR, Nijland JG, van Den Bogaard R, de Visser M, de Die-Smulders CE, Smeets HJ.

Nucleic Acids Res. 2000 Oct 15;28(20):E89.PMID: 11024191 [PubMed - indexed for MEDLINE]Related articlesFree article

Progressive sensorineural hearing impairment in maternally inherited diabetes mellitus and deafness (MIDD).

Hendrickx JJ, Mudde AH, 't Hart LM, Huygen PL, Cremers CW.

Otol Neurotol. 2006 Sep;27(6):802-8.PMID: 16788417 [PubMed - indexed for MEDLINE]Related articles

Search for mitochondrial A3243G tRNA(Leu) mutation in Polish patients with type 2 diabetes mellitus.

Małecki M, Klupa T, Wanic K, Frey J, Cyganek K, Sieradzki J.

Med Sci Monit. 2001 Mar-Apr;7(2):246-50.PMID: 11257730 [PubMed - indexed for MEDLINE]Related articles

Heteroplasmy level of the mitochondrial tRNaLeu(UUR) A3243G mutation in a Chinese family is positively associated with earlier age-of-onset and increasing severity of diabetes.

Zhang S, Tong AL, Zhang Y, Nie M, Li YX, Wang H.

Chin Med Sci J. 2009 Mar;24(1):20-5.PMID: 19382419 [PubMed - indexed for MEDLINE]Related articles

A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.

Fu K, Hartlen R, Johns T, Genge A, Karpati G, Shoubridge EA.

Hum Mol Genet. 1996 Nov;5(11):1835-40.PMID: 8923013 [PubMed - indexed for MEDLINE]Related articlesFree article

Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA.

Lien LM, Lee HC, Wang KL, Chiu JC, Chiu HC, Wei YH.

Acta Neurol Scand. 2001 Mar;103(3):159-65.PMID: 11240563 [PubMed - indexed for MEDLINE]Related articles

The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes.

Laloi-Michelin M, Meas T, Ambonville C, Bellanné-Chantelot C, Beaufils S, Massin P, Vialettes B, Gin H, Timsit J, Bauduceau B, Bernard L, Bertin E, Blickle JF, Cahen-Varsaux J, Cailleba A, Casanova S, Cathebras P, Charpentier G, Chedin P, Crea T, Delemer B, Dubois-Laforgue D, Duchemin F, Ducluzeau PH, Bouhanick B, Dusselier L, Gabreau T, Grimaldi A, Guerci B, Jacquin V, Kaloustian E, Larger E, Lecleire-Collet A, Lorenzini F, Louis J, Mausset J, Murat A, Nadler-Fluteau S, Olivier F, Paquis-Flucklinger V, Paris-Bockel D, Raynaud I, Reznik Y, Riveline JP, Schneebeli S, Sonnet E, Sola-Gazagnes A, Thomas JL, Trabulsi B, Virally M, Guillausseau PJ; Mitochondrial Diabetes French Study Group.

J Clin Endocrinol Metab. 2009 Aug;94(8):3025-30. Epub 2009 May 26.PMID: 19470619 [PubMed - indexed for MEDLINE]Related articles

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

Taylor RW, Giordano C, Davidson MM, d'Amati G, Bain H, Hayes CM, Leonard H, Barron MJ, Casali C, Santorelli FM, Hirano M, Lightowlers RN, DiMauro S, Turnbull DM.

J Am Coll Cardiol. 2003 May 21;41(10):1786-96.PMID: 12767666 [PubMed - indexed for MEDLINE]Related articles

Molecular and clinical aspects of mitochondrial diabetes mellitus.

Maassen JA, van Essen E, van den Ouweland JM, Lemkes HH.

Exp Clin Endocrinol Diabetes. 2001;109(3):127-34. Review.PMID: 11409293 [PubMed - indexed for MEDLINE]Related articles

Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.

Lévêque M, Marlin S, Jonard L, Procaccio V, Reynier P, Amati-Bonneau P, Baulande S, Pierron D, Lacombe D, Duriez F, Francannet C, Mom T, Journel H, Catros H, Drouin-Garraud V, Obstoy MF, Dollfus H, Eliot MM, Faivre L, Duvillard C, Couderc R, Garabedian EN, Petit C, Feldmann D, Denoyelle F.

Eur J Hum Genet. 2007 Nov;15(11):1145-55. Epub 2007 Jul 18.PMID: 17637808 [PubMed - indexed for MEDLINE]Related articlesFree article

[Analysis of mutations A3243G, C3256T and mitochondrial deletions in 41 diabetic patients]

Biarnésa J, Rojas I, Fernández-Castañer M, Nunes V, Gómez M, Ricart W.

Med Clin (Barc). 2001 Mar 3;116(8):292-3. Spanish. PMID: 11333748 [PubMed - indexed for MEDLINE]Related articles