A case of mitochondrial diabetes associated with 3243 bp tRNA Leu (UUR) mutation, who suffered from the rapid appearance of "mitochondriopathies"

被引:0
作者
Suzuki, Yoshihiko [1 ]
Sano, Motoaki [2 ]
Irie, Junichihro [3 ]
Kawai, Toshihide [4 ]
Meguro, Shu [3 ]
Ikemura, Nobuhiro [2 ]
机构
[1] HDC Atlas Clin, Tokyo, Japan
[2] Keio Univ, Sch Med, Dept Cardiol, Tokyo, Japan
[3] Keio Univ, Sch Med, Dept Internal Med, Tokyo, Japan
[4] Saiseikai Cent Hosp, Dept Internal Med, Tokyo, Japan
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
PB-18
引用
收藏
页码:S81 / S81
页数:1
相关论文
共 50 条
[21]   Mitochondrial tRNA(Leu(UUR)) gene mutation diabetes mellitus in Chinese [J].
Xiang, KS ;
Wang, YQ ;
Wu, SH ;
Lu, HJ ;
Zheng, TS ;
Sun, DQ ;
Weng, Q ;
Jin, WP ;
Shen, WP ;
Liu, P ;
He, JW .
CHINESE MEDICAL JOURNAL, 1997, 110 (05) :372-378
[22]   STUDIES OF THE MITOCHONDRIAL-3243 TRANSFER RNA(LEU(UUR)) MUTATION IN ATYPICAL DIABETES [J].
NAKAMURA, M ;
HOUSE, DV ;
MACLAREN, NK ;
WINTER, WE .
CLINICAL CHEMISTRY, 1995, 41 (06) :S106-S107
[23]   DIABETES-MELLITUS CARRYING A MUTATION IN THE MITOCHONDRIAL TRNA(LEU(UUR)) GENE [J].
KISHIMOTO, M ;
HASHIRAMOTO, M ;
ARAKI, S ;
ISHIDA, Y ;
KAZUMI, T ;
KANDA, F ;
KASUGA, M .
DIABETOLOGIA, 1995, 38 (02) :193-200
[24]   Presence of mitochondrial tRNA Leu(UUR) A to G 3243 mutation in DNA extracted from serum and plasma of patients with type 2 diabetes mellitus [J].
Zhong, S ;
Ng, MCY ;
Lo, YMD ;
Chan, JCN ;
Johnson, PJ .
JOURNAL OF CLINICAL PATHOLOGY, 2000, 53 (06) :466-469
[25]   Mutation in mitochondrial tRNA(Leu(UUR)) gene associated with progressive kidney disease [J].
Jansen, JJ ;
Maassen, JA ;
VanderWoude, FJ ;
Lemmink, HAJ ;
VandenOuweland, JMW ;
THart, LM ;
Smeets, HJM ;
Bruijn, JA ;
Lemkes, HHPJ .
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 1997, 8 (07) :1118-1124
[26]   Islet cell antibodies irm diabetes mellitus associated with a mitochondrial tRNA(Leu(UUR)) gene mutation [J].
Oexle, K ;
Oberle, J ;
Finckh, B ;
Kohlschutter, A ;
Nagy, M ;
Seibel, P ;
Seissler, J ;
Hubner, C .
EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, 1996, 104 (03) :212-217
[27]   Accumulation of somatic nucleotide substitutions in mitochondrial DNA associated with the 3243 A-to-G tRNA(Leu(UUR)) mutation in encephalomyopathy and cardiomyopathy [J].
Kovalenko, SA ;
Tanaka, M ;
Yoneda, N ;
Iakovlev, AF ;
Ozawa, T .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1996, 222 (02) :201-207
[28]   HYPERTROPHIC CARDIOMYOPATHY IN PATIENTS WITH DIABETES-MELLITUS ASSOCIATED WITH MITOCHONDRIAL TRNA(LEU(UUR)) GENE MUTATION [J].
YOSHIDA, R ;
ISHIDA, Y ;
ABO, K ;
HOZUMI, T ;
UENO, H ;
SHIOTANI, H ;
KISHIMOTOHASHIRAMOTO, M ;
HASHIRAMOTO, M ;
MATSUNAGA, K ;
KASUGA, M ;
KAZUMI, T .
INTERNAL MEDICINE, 1995, 34 (10) :953-958
[29]   The expanding clinical phenotype of the tRNA(Leu(UUR)) A->G mutation at np 3243 of mitochondrial DNA: Diabetic embryopathy associated with mitochondrial cytopathy [J].
Feigenbaum, A ;
Chitayat, D ;
Robinson, B ;
MacGregor, D ;
Myint, T ;
Arbus, G ;
Nowaczyk, MJM .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 62 (04) :404-409
[30]   DEMYELINATING POLYNEUROPATHY IN A PATIENT WITH THE TRNA(LEU(UUR)), MUTATION AT BASE-PAIR-3243 OF THE MITOCHONDRIAL-DNA [J].
RUSANEN, H ;
MAJAMAA, K ;
TOLONEN, U ;
REMES, AM ;
MYLLYLA, R ;
HASSINEN, IE .
NEUROLOGY, 1995, 45 (06) :1188-1192