Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation.

Abstract

We describe a second patient carrying the 5698G-->A transition in the mitochondrial DNA gene encoding tRNA(Asn), who has an apparently isolated mitochondrial myopathy with chronic progressive external ophthalmoplegia. A muscle biopsy showed the presence of ragged-red and COX-negative fibres. Analysis of the mutation load on single muscle fibres showed significant segregation of the 5698G-->A with COX-depleted fibres. These results indicate that the 5698G-->A is pathogenic.

• Authors: Antonella Spinazzola, Franco Carrara, Marina Mora, Massimo Zeviani
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 14 Issue 12 Pg. 815-7 (Dec 2004) ISSN: 0960-8966 [Print] England
• PMID: 15564038 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA, Mitochondrial
• RNA, Transfer, Asn
• Guanine
• Electron Transport Complex IV
• Adenine

Topics

• Adenine (metabolism)
• Aged
• Base Sequence (genetics)
• Chronic Disease
• DNA, Mitochondrial (genetics)
• Electron Transport Complex IV (metabolism)
• Guanine (metabolism)
• Humans
• Male
• Muscle Fibers, Skeletal (metabolism, pathology)
• Oculomotor Muscles (metabolism, pathology, physiopathology)
• Ophthalmoplegia, Chronic Progressive External (genetics, metabolism, physiopathology)
• Point Mutation (genetics)
• RNA, Transfer, Asn (genetics)