Article
Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations.
Mitochondrion - 1 Mar 2018
Tosserams Anouk, Papadopoulos Constantinos, Jardel Claude, Lemière Isabelle, Romero Norma B, De Lonlay Pascale, Wahbi Karim, Voermans Nicol, Hogrel Jean-Yves, Laforêt Pascal
Abstract excerpt
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...
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