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

TitleMitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation.
Publication TypeJournal Article
Year of Publication2004
AuthorsSpinazzola, A, Carrara, F, Mora, M, Zeviani, M
JournalNeuromuscul Disord
Volume14
Issue12
Pagination815-7
Date Published2004 Dec
ISSN0960-8966
KeywordsAdenine, Aged, Base Sequence, Chronic Disease, DNA, Mitochondrial, Electron Transport Complex IV, Guanine, Humans, Male, Muscle Fibers, Skeletal, Oculomotor Muscles, Ophthalmoplegia, Chronic Progressive External, Point Mutation, RNA, Transfer, Asn
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.

DOI10.1016/j.nmd.2004.09.002
Alternate JournalNeuromuscul. Disord.
Citation Key10.1016/j.nmd.2004.09.002
PubMed ID15564038
Grant ListGGP030039 / / Telethon / Italy