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New phenotypic diversity associated with the mitochondrial tRNASer(UCN) gene mutation

  • Published:2005-05 Issue:5 Volume:15 Page:364-371
  • ISSN:0960-8966
  • Container-title:Neuromuscular Disorders
  • language:en
  • Short-container-title:Neuromuscular Disorders

Author:

Pulkes T.,Liolitsa D.,Eunson L.H.,Rose M.,Nelson I.P.,Rahman S.,Poulton J.,Marchington D.R.,Landon D.N.,Debono A.G.,Morgan-Hughes J.A.,Hanna M.G.

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference24 articles.

1. Review: mitochondrial encephalopathies: the enigma of genotype versus phenotype [Review];Morgan-Hughes;Biochem Biophys Acta,1999

2. Human mitochondrial DNA diseases;Pulkes;Adv Drug Deliv Rev,2001

3. Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype;Morgan-Hughes;Biochem Biophys Acta,1995

4. Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene;Tiranti;Hum Mol Genet,1995

5. Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutation in the tRNASer(UCN) gene;Jaksch;Ann Neurol,1998
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