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

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

Author information

1
Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Centre for Cognitive Neuroscience, Department of Neurology, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. Electronic address: Anouk.Tosserams@radboudumc.nl.
2
Paris-Est Neuromuscular Center, Pitié-Salpêtrière Hospital, Paris, France. Electronic address: constantinospapadopoulos@yahoo.com.
3
Biochemistry Department and Genetic Center, APHP, GHU Pitié-Salpêtrière, Paris, France; Inserm U 1016, CNRS UMR 8104, Institut Cochin, Paris, France; GRC-UPMC Neuro-métabolisme, Université Pierre et Marie Curie, Paris, France. Electronic address: Claude.Jardel@aphp.fr.
4
Biochemistry Department and Genetic Center, APHP, GHU Pitié-Salpêtrière, Paris, France; Inserm U 1016, CNRS UMR 8104, Institut Cochin, Paris, France; GRC-UPMC Neuro-métabolisme, Université Pierre et Marie Curie, Paris, France. Electronic address: Isabelle.Lemiere@aphp.fr.
5
Unit of Neuromuscular Morphology, Institute of Myology, GHU La Pitié-Salpêtrière, Paris, France. Electronic address: nb.romero@institut-myologie.org.
6
Center for Inherited Metabolic Diseases, Hopital Necker Enfants Malades, AP-HP, University Paris Descartes, Paris, France. Electronic address: Pascale.DeLonlay@aphp.fr.
7
Paris-Est Neuromuscular Center, Pitié-Salpêtrière Hospital, Paris, France. Electronic address: karim.wahbi@aphp.fr.
8
Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Centre for Cognitive Neuroscience, Department of Neurology, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. Electronic address: Nicol.Voermans@radboudumc.nl.
9
Institute of Myology, Pitié-Salpêtrière Hospital, 75651 Paris Cedex 13, France. Electronic address: JY.Hogrel@institut-myologie.org.
10
Paris-Est Neuromuscular Center, Pitié-Salpêtrière Hospital, Paris, France. Electronic address: pascal.laforet@aphp.fr.

Abstract

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

PMID:
28823815
DOI:
10.1016/j.mito.2017.08.009
[Indexed for MEDLINE]

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