Title: | Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations |
Journal : | Mitochondrion, 39 |
Authors: | Tosserams A, Author ; Papadopoulos C ; Jardel C ; Lemière I ; Romero NB ; de Lonlay P ; Wahbi K ; Voermans N ; Hogrel JY ; Laforet P |
Material Type: | Article |
Publication Date: | 2018 |
Size: | p 26 |
Languages: | English |
Keywords : | adenine nucleotide translocator ; case studies ; clinical presentation ; exercise intolerance ; gène SLC25A4 ; genetic diagnosis ; genetic mutations ; hypertrophic cardiomyopathy ; lactic acid ; mitochondrial myopathy ; muscle histopathology |
Keywords: | ANT1;Cardiomyopathy;Exercise intolerance;Mitochondrial myopathy;SLC25A4; |
Pubmed / DOI : | DOI : 10.1016/j.mito.2017.08.009 / Pubmed : 28823815 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/28823815 |