Diabetes associated with a novel 3264 mitochondrial tRNA(Leu(UUR)) mutation

Diabetes Care

Volumn 20, Issue 7, 1997, Pages 1138-1140

  Suzuki, Yoshihiko ^a   Suzuki, Susumu ^b   Hinokio, Yoshinori ^b   Chiba, Masaki ^b   Atsumi, Yoshihito ^a   Hosokawa, Kazuhiro ^a   Shimada, Akira ^a   Asahina, Takayuki ^a   Matsuoka, Kempei ^a  

^a SAISEIKAI CENTRAL HOSPITAL   (Japan)

^b TOHOKU UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

LEUCINE TRANSFER RNA; MITOCHONDRIAL DNA; MITOCHONDRIAL RNA;

ADULT; ARTICLE; CASE REPORT; DIABETES MELLITUS; FACIAL NERVE PARALYSIS; FAMILIAL DISEASE; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; MUSCLE BIOPSY; MUSCLE MITOCHONDRION; OPHTHALMOPLEGIA;

EID: 0030906910     PISSN: 01495992     EISSN: None     Source Type: Journal    
DOI: 10.2337/diacare.20.7.1138     Document Type: Article

References (6)

1. Leu(UUR) gene in a large pedigree with maternally transmitted type diabetes mellitus and deafness. Nat Genet 1:369-371, 1992
2. Suzuki Y, Tsukuda K, Atumi Y, Goto Y, Hosowaka K, Asahina T, Nonaka I, Matuoka K, Oka Y: Clinical picture of a case of diabetes mellitus with mitochondrial tRNA mutation at position 3271. Diabetes Care 19:1304-1305, 1996
3. Moraes C, Ciacci F, Bonilla E, Jansen C, Hirano M, Rao N, Lovelace RE, Rowland LP, Schon EA, DiMauro S: Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein systhesis. J Clin Invest 92:2906-2915, 1993
4. Leu(UUR). Lancet 338:143-147, 1991
5. Traff J, Holme E, Ekbom K, Nilsson BY: Ekbom's syndrome of photomyoclonus, cerebellar ataxia, and cervical lipoma is associated with the tRNA(Lys) A8344G mutation in mitochondrial DNA. J Acta Neurol Scand 92:394-397, 1995
6. Goto Y, Horai S, Matsuoka T, Koga Y., Nihei K, Kobayash M, Nonaka I: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Neurology 42: 545-550, 1992