Catastrophic presentation of mitochondrial disease due to a mutation in the tRNAHis gene

Neurology

Volumn 62, Issue 8, 2004, Pages 1420-1423

  Taylor, Robert W ^a   Schaefer, A M ^a   McDonnell, M T ^a   Petty, R K H ^b   Thomas, A M ^b   Blakely, E L ^a   Hayes, C M ^a   McFarland, R ^a   Turnbull, D M ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b SOUTHERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACICLOVIR; CEFTRIAXONE; HISTIDINE; PHENYTOIN; TRANSFER RNA;

ADULT; ANAMNESIS; ARTICLE; BASE PAIRING; BRAIN EDEMA; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; CYTOCHROME C OXIDASE DEFICIENCY; DISEASE SEVERITY; FEMALE; GENE MUTATION; HEADACHE; HETEROPLASMY; HUMAN; HYDROCEPHALUS; LABORATORY TEST; MALE; MITOCHONDRIAL DNA DISORDER; MUSCLE CELL; PREDICTION; PRIORITY JOURNAL; SEIZURE; TERMINAL DISEASE;

EID: 1942505923     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000120667.77372.46     Document Type: Article

References (10)

1. McFarland R, Taylor RW, Turnbull DM. The neurology of mitochondrial DNA disease. Lancet Neurol 2002;1:345-351.
2. Old SL, Johnson MA. Methods of microphotometric assay of succinate dehydrogenase and cytochrome c oxidase activities for use on human skeletal muscle. Histochem J 1989;21:545-555.
3. Taylor RW, Turnbull DM. Laboratory diagnosis of mitochondrial disease. In: Applegarth DA, Dimmick J, Hall JG, eds. Organelle Diseases. London: Chapman & Hall, 1997:341-350.
4. Andrews RM, Kubacka I, Chinnery PF, Turnbull DM, Lightowlers RN, Howell N. Reanalysis and revision of the Cambridge Reference Sequence. Nature Genet 1999;23:147.
5. Ciafaloni E, Ricci E, Shanske S, et al. MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol 1992;31:391-398.
6. Kim IO, Kim JH, Kim WS, Hwang YS, Yeon KM, Han MC. Mitochondrial myopathy-encephalopathy-lactic acidosis-and strokelike episodes (MELAS) syndrome: CT and MR findings in seven children. Am J Roentgenol 1996;166:641-645.
7. Breningstall GN, Lockman LA. Massive focal brain swelling as a feature of MELAS. Pediatr Neurol 1988;4:366-370.
8. Danks RA, Dorevitch M, Cummins JT, Byrne E. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): adolescent onset with severe cerebral edema. Aust N Z J Med 1988;18: 69-72.
9. His gene mutation causing pigmentary retinopathy and neurosensorial deafness. Neurology 2003;60:1200-1203.
10. Poulton J, Turnbull DM. 74th ENMC International Workshop: mitochondrial diseases. Neuromuscul Disord 2000;10:460-462.