Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

Saskia B. Wortmann, Michael P. Champion, Lambert van den Heuvel, H. Barth, B. Trutnau, Kate Craig, Martin Lammens, Michiel F. Schreuder, Robert W. Taylor, Jan A.M. Smeitink, Ron A. Wevers, Richard J. Rodenburg, Eva Morava

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


We present two new patients with the recently described mitochondrial m.3242G > A mutation. Although the mutation is situated next to the well known m.3243A > G mutation, the most common alteration associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, the clinical presentation is quite different, but characteristic. All three m.3242G > A patients presented in the neonatal period with hypertrophic and dilated cardiomyopathy, generalized muscle hypotonia and lactic acidosis. Two additionally had creatine kinase elevation, renal tubular acidosis/dysfunction and showed a mild clinical course with a favourable psychomotor development. The third patient had more neurological involvement and died in infancy. The mutation occurred de novo in the two patients where maternal investigations were performed. The combination of hypertrophic cardiomyopathy and renal tubular acidosis/renal tubular dysfunction is clinically distinctive and may represent a separate entity.

Original languageEnglish (US)
Pages (from-to)552-556
Number of pages5
JournalEuropean Journal of Medical Genetics
Issue number10
StatePublished - Oct 2012


  • 3-Methylglutaconic aciduria
  • CK elevation
  • Lipid myopathy
  • MELAS syndrome
  • Mitochondriopathy
  • Muscular hypotonia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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