A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia

Neurology

Volumn 49, Issue 4, 1997, Pages 1166-1168

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

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; ISOLEUCINE TRANSFER RNA; MITOCHONDRIAL DNA;

ARTICLE; CASE REPORT; CHILD; CLINICAL PROTOCOL; CONTROLLED STUDY; DISEASE ASSOCIATION; ELECTROMYOGRAPHY; EXTERNAL OPHTHALMOPLEGIA; FEMALE; HUMAN; HUMAN TISSUE; NEEDLE BIOPSY; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; PRIORITY JOURNAL; SKELETAL MUSCLE;

EID: 0030664248     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.49.4.1166     Document Type: Article

References (10)

1. Moraes CT, DiMauro S, Zeviani M, et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome [comments]. N Engl J Med 1989;320: 1293-1299.
2. Moraes CT, Ciacci F, Silvestri G, et al. Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA. Neuromuscul Disord 1993;3:43-50.
3. Hattori Y, Goto Y-I, Sakuta R, Nonaka I, Mizuno Y, Horai S. Point mutations in mitochondrial tRNA genes: sequence analysis of chronic progressive external ophthalmoplegia (CPEO). J Neurol Sci 1994;125:50-55.
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9. Santorelli FM, Mak SC, Vazquez-Acevedo M, et al. A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy. Biochem Biophys Res Commun 1995;216:835-840.
10. Silvestri G, Servidei S, Rana M, et al. A novel mitochondrial DNA point mutation in the tRNA(Ile) gene is associated with progressive external ophthalmoplegia. Biochem Biophys Res Commun 1996;220:623-627.