Abstract:
:The authors describe a novel pathogenic G5540A transition in the mitochondrial transfer RNA (tRNA)Trp gene of a sporadic encephalomyopathy characterized by spinocerebellar ataxia. Clinical features also included neurosensorial deafness, peripheral neuropathy, and dementia. Biochemistry revealed a severe reduction of cytochrome c oxidase (COX) activity. Single-fiber PCR demonstrated higher levels of mutant genomes in COX-negative ragged red fibers than in normal fibers. These findings confirm that COX is more susceptible than other respiratory chain complexes to mutations in the mitochondrial tRNATrp gene.
journal_name
Neurologyjournal_title
Neurologyauthors
Silvestri G,Mongini T,Odoardi F,Modoni A,deRosa G,Doriguzzi C,Palmucci L,Tonali P,Servidei Sdoi
10.1212/wnl.54.8.1693subject
Has Abstractpub_date
2000-04-25 00:00:00pages
1693-6issue
8eissn
0028-3878issn
1526-632Xjournal_volume
54pub_type
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