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Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA ser(UCN) gene
Author(s) -
Jaksch Michaela,
Klopstock Thomas,
Kurlemann Gerd,
Dörner Marion,
Hofmann Sabine,
Kleinle Stephanie,
Hegemann Stephan,
Weissert Markus,
MüLlerHöcker Josef,
Pongratz Dieter,
Gerbitz KlusDieter
Publication year - 1998
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410440409
Subject(s) - ataxia , mitochondrial myopathy , myoclonus , lactic acidosis , mutation , transfer rna , genetics , mitochondrial disease , mitochondrial dna , biology , epilepsy , respiratory chain , gene , mitochondrion , mitochondrial respiratory chain , endocrinology , neuroscience , rna
We report seven unrelated families with mitochondrial tRNA Ser(UCN) gene mutations at three different loci. A novel G7497A mutation is found in two families, both of which present with progressive myopathy, ragged‐red fibers, lactic acidosis, and deficiency of repiratory chain complexes I and IV. This mutation presumably affects the tertiary tRNA Ser(UCN) dihydrouridine interaction. Mutations 7472 insC and T7512C, found in three and two families, respectively, are associated with myoclonus epilepsy, deafness, ataxia, cognitive impairment, and complex IV deficiency. No ragged‐red fibers or ultrastructural abnormalities are seen. It is interesting that 6 of our 7 index patients are apparently homoplasmic, indicating a minor pathogenetic power of the tRNA Ser(UCN) mutations.