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Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations.
Tosserams, Anouk; Papadopoulos, Constantinos; Jardel, Claude; Lemière, Isabelle; Romero, Norma B; De Lonlay, Pascale; Wahbi, Karim; Voermans, Nicol; Hogrel, Jean-Yves; Laforêt, Pascal.
Afiliação
  • Tosserams A; 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.
  • Papadopoulos C; Paris-Est Neuromuscular Center, Pitié-Salpêtrière Hospital, Paris, France. Electronic address: constantinospapadopoulos@yahoo.com.
  • Jardel C; 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.
  • Lemière I; 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.
  • Romero NB; Unit of Neuromuscular Morphology, Institute of Myology, GHU La Pitié-Salpêtrière, Paris, France. Electronic address: nb.romero@institut-myologie.org.
  • De Lonlay P; Center for Inherited Metabolic Diseases, Hopital Necker Enfants Malades, AP-HP, University Paris Descartes, Paris, France. Electronic address: Pascale.DeLonlay@aphp.fr.
  • Wahbi K; Paris-Est Neuromuscular Center, Pitié-Salpêtrière Hospital, Paris, France. Electronic address: karim.wahbi@aphp.fr.
  • Voermans N; 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.
  • Hogrel JY; Institute of Myology, Pitié-Salpêtrière Hospital, 75651 Paris Cedex 13, France. Electronic address: JY.Hogrel@institut-myologie.org.
  • Laforêt P; Paris-Est Neuromuscular Center, Pitié-Salpêtrière Hospital, Paris, France. Electronic address: pascal.laforet@aphp.fr.
Mitochondrion ; 39: 26-29, 2018 03.
Article em En | MEDLINE | ID: mdl-28823815
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Miopatias Mitocondriais / Translocador 1 do Nucleotídeo Adenina / Hiperlactatemia / Cardiomiopatias Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Miopatias Mitocondriais / Translocador 1 do Nucleotídeo Adenina / Hiperlactatemia / Cardiomiopatias Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article