Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation

Elena Cardaioli, Edoardo Malfatti, Carla Battisti, Paola Da Pozzo, Anna Rubegni, Gian Nicola Gallus, Alessandro Malandrini, Antonio Federico

Research output: Contribution to journalArticle

Abstract

We report a new T8306C transition in the D-stem of the MTTK gene of a 67-year-old man who manifested severe adult onset myopathy, myoclonus, leukoencephalopathy, neurosensory hypoacusis, hypertrophic cardiomyopathy and insulin resistance. No other family member was affected, suggesting that our patient was a sporadic case. The T8306C mutation was heteroplasmic in several tissues of the proband, while it was absent from his asymptomatic siblings. Single fibre analysis confirmed the segregation of higher mutational load in cytochrome c oxidase-deficient fibres. The mutation T8306C is predicted to disrupt a highly conserved base pair and was not found in more than 120 controls. This finding broadens the phenotypic and molecular spectrum of mitochondrial tRNALys associated disorders.

Original languageEnglish
Pages (from-to)92-95
Number of pages4
JournalJournal of the Neurological Sciences
Volume321
Issue number1-2
DOIs
Publication statusPublished - Oct 15 2012

Keywords

  • Encephalomyopathies
  • Heteroplasmy
  • Mitochondrial DNA
  • MTTK
  • Muscle biochemical analysis
  • Pathogenicity
  • Single fibre studies

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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