Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNAser(UCN)gene-Reference-Cited by-同舟云学术

Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNAser(UCN)gene

Published:1998-10 Issue:4 Volume:44 Page:635-640
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Jaksch Michaela,Klopstock Thomas,Kurlemann Gerd,Dörner Marion,Hofmann Sabine,Kleinle Stephanie,Hegemann Stephan,Weissert Markus,MüLler-Höcker Josef,Pongratz Dieter,Gerbitz Klus-Dieter

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference22 articles.

1. Clinical presentations and laboratory investigations in respiratory chain deficiency;Munnich;Eur J Pediatr,1996

2. Myoclonic epilepsy and ragged red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation;Shoffner;Cell,1990

3. A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalopathies;Goto;Nature,1990

4. A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness;Reid;Hum Mutat,1994

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