The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegia

Neuromuscular Disorders

Volumn 19, Issue 4, 2009, Pages 297-299

  Sotiriou, Evangelia ^a   Çoku, Jorida ^a   Tanji, Kurenai ^a   Huang, Hua bin ^a   Hirano, Michio ^a   DiMauro, Salvatore ^a  

^a NewYork Presbyterian Hospital   (United States)

Author keywords

CPEO; mtDNA; Mutation; tRNALeu(UUR)

Indexed keywords

LEUCINE; MITOCHONDRIAL DNA; TRANSFER RNA;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CHRONIC DISEASE; CLINICAL FEATURE; DISEASE COURSE; EXTERNAL OPHTHALMOPLEGIA; GENE MUTATION; GENE SEQUENCE; GENOME ANALYSIS; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; LABORATORY TEST; MALE; MITOCHONDRIAL MYOPATHY; MUSCLE BIOPSY; NEUROLOGIC EXAMINATION; PATHOGENICITY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SOUTHERN BLOTTING; URINE SEDIMENT;

BASE SEQUENCE; CONSERVED SEQUENCE; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL DISEASES; MUSCLE FIBERS, SKELETAL; MUTATION; NUCLEOTIDES; OCULOMOTOR MUSCLES; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; QUADRICEPS MUSCLE; RNA, TRANSFER, LEU;

EID: 63749086608     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.01.014     Document Type: Article

References (10)

1. DiMauro S., and Davidzon G. Mitochondrial DNA and disease. Ann Med 37 (2005) 222-232
2. Moraes C.T., Ciacci F., Silvestri G., et al. Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA. Neuromusc Disord 3 (1993) 43-50
3. Kirino Y., Goto Y.I., Campos Y., Arenas J., and Suzuki T. Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease. Proc Nat Acad Sci USA 102 (2005) 7127-7132
4. Leu(UUR) gene. Arch Neurol 62 (2005) 1920-1923
5. Pulkes T., and Hanna M.G. Human mitochondrial DNA disease. Adv Drug Deliv Rev 49 (2001) 27-43
6. Schon E.A., Bonilla E., and DiMauro S. Mitochondrial DNA mutations and pathogenesis. J Bioenerg Biomembr 29 (1997) 131-149
7. Leu(UUR) mutation in a patient with features of MERRF and Kearns-Sayre syndrome. Neuromusc Disord 13 (2003) 334-340
8. Lys with the MERRF encephalomyopathy pathogenic mutation. FEBS Lett 467 (2000) 175-178
9. Yao Y.G., Ogasawara Y., Kajigaya S., et al. Mitochondrial DNA sequence variation in single cells from leukemia patients. Blood 109 (2007) 756-762
10. Carew J.S., Zhou Y., Albitar M., Carew J.D., Keating M.J., and Huang P. Mitochondrial DNA mutations in primary leukemia cells after chemotherapy: clinical significance and therapeutic implications. Leukemia 17 (2003) 1437-1447