A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis

Annals of Neurology

Volumn 41, Issue 3, 1997, Pages 408-410

  Chinnery, P F ^a   Johnson, M A ^a   Taylor, R W ^a   Lightowlers, R N ^a   Turnbull, D M ^a,b  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; PHENYLALANINE TRANSFER RNA;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; ENZYME ACTIVITY; GENE MUTATION; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; LABORATORY TEST; MALE; MUSCLE BIOPSY; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESPIRATORY CHAIN; RHABDOMYOLYSIS;

ACUTE DISEASE; ADULT; BASE SEQUENCE; BIOPSY; CYTOCHROME-C OXIDASE DEFICIENCY; HUMANS; MALE; MUSCLE, SKELETAL; MYOGLOBINURIA; PHENYLALANINE; POINT MUTATION; RHABDOMYOLYSIS; RNA, TRANSFER, AMINO ACID-SPECIFIC;

EID: 0031056639     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410410319     Document Type: Article

References (15)

1. Walton J, Karpati G, Hilton-Jones D, eds. Disorders of voluntary muscle. 6th ed. London: Churchill-Livingstone, 1994
2. Penn AS. Myoglobinuria. In: Engel AG, Franzini-Armstrong C, eds. Myology. 2nd ed. New York: McGraw-Hill, 1994
3. Tonin P, Lewis P, Seridei S, DiMauro S. Metabolic causes of myoglobinuria. Ann Neurol 1990;27:181-185
4. Ogasahara S, Engel AG, Frens D, Mack D. Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci USA 1989;86:2379-2392
5. Hara H, Wakayama Y, Kuono Y, et al. Acute peripheral neuropathy, rhabdomyolysis, and severe lactic acidosis associated with 3243 A to G mitochondrial DNA mutation. J Neurol Neurosurg Psychiatry 1994;57:1545-1546
6. Saunier P, Chretien D, Wood C, et al. Cyrochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria. Neuromusc Disord 1995;5:285-289
7. Keightley JA, Haoffbuhr KC, Burton MD, et al. A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. Nature Genet 1996;12:410-416
8. Ohno K, Tanaka M, Sahashi K, et al. Mitochondrial DNA deletions in inherited recurrent myoglobinuria. Ann Neurol 1991; 29:364-369
9. Johnson MA, Bindoff LA, Turnbull DM. Cytochrome c oxidase activity in single muscle fibres: assay techniques and diagnostic applications. Ann Neurol 1993;33:28-35
10. Anderson S, Bankier AT, Barrell BG, et al. Sequence and organisation of the human mitochondrial genome. Nature 1981; 290:457-465
11. DiMauro S, DiMauro PP. Muscle carnitine palmitoyl transferase deficiency and myoglobinuria. Science 1973;182:929-931.
12. Ogilvie I, Pourfarzam M, Jackson S, et al. Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise induced myoglobinuria. Neurology 1994;44:467-473
13. Sprintzl M, Hartmann, Weber J, et al. Compilation of tRNA sequences and sequences of tRNA genes. Nucleic Acid Res 1989;17(suppl):r1-r172
14. Leu(UUR). Lancet 1991;338:143-147
15. Moraes CT, Ciacci F, Bonilla E, et al. Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. J Clin Invest 1993;92:2906-2915