Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations

Mitochondrion. 2018 Mar;39:26-29. doi: 10.1016/j.mito.2017.08.009. Epub 2017 Aug 18.


We report the clinical, morphological and molecular features of two patients with autosomal recessive SLC25A4 (ANT1) gene mutations. Furthermore, all previously published cases are reviewed to identify valuable features for future diagnosis. Patients present a common phenotype with exercise intolerance, hyperlactatemia, and hypertrophic cardiomyopathy. Muscle biopsies show wide sub-sarcolemmal mitochondrial aggregates, and increased activities of all respiratory chain complexes. The phenotype of recessive SLC25A4 (ANT1) mutations although rare, is homogenous and easily recognizable and could help orientate the molecular analysis in adults with exercise intolerance associated with hyperlactatemia.

Keywords: ANT1; Cardiomyopathy; Exercise intolerance; Mitochondrial myopathy; SLC25A4.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adenine Nucleotide Translocator 1 / genetics*
  • Adult
  • Cardiomyopathies / etiology*
  • Cardiomyopathies / pathology*
  • Exercise
  • Female
  • Genes, Recessive
  • Humans
  • Hyperlactatemia / etiology*
  • Hyperlactatemia / pathology*
  • Middle Aged
  • Mitochondria / pathology
  • Mitochondrial Myopathies / complications*
  • Mitochondrial Myopathies / genetics
  • Mitochondrial Myopathies / pathology*
  • Muscles / pathology
  • Mutation


  • Adenine Nucleotide Translocator 1
  • SLC25A4 protein, human