Danon disease: Further clinical and molecular heterogeneity
Frédérique Sabourdy DVM, PhD
Laboratoire de Biochimie “Maladies Métaboliques,” Institut Fédératif de Biologie, CHU Purpan, Toulouse, France
INSERM U858, Institut de Médecine de Moléculaire de Rangueil, BP 84255, Cedex 4, 31432 Toulouse, France
Université Paul Sabatier, Institut de Médecine Moléculaire de Rangueil, IFR31, Toulouse, France
Search for more papers by this authorHelen Michelakakis PhD
Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece
Search for more papers by this authorAris Anastasakis MD, PhD
Division of Inherited Cardiovascular Disease, First Department of Cardiology, University of Athens, Athens, Greece
Search for more papers by this authorVirginie Garcia
INSERM U858, Institut de Médecine de Moléculaire de Rangueil, BP 84255, Cedex 4, 31432 Toulouse, France
Search for more papers by this authorIrene Mavridou PhD
Laboratoire de Biochimie “Maladies Métaboliques,” Institut Fédératif de Biologie, CHU Purpan, Toulouse, France
Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece
Search for more papers by this authorMichèle Nieto
Laboratoire de Biochimie “Maladies Métaboliques,” Institut Fédératif de Biologie, CHU Purpan, Toulouse, France
Search for more papers by this authorMarie-Claude Pons
Laboratoire de Biochimie “Maladies Métaboliques,” Institut Fédératif de Biologie, CHU Purpan, Toulouse, France
INSERM U858, Institut de Médecine de Moléculaire de Rangueil, BP 84255, Cedex 4, 31432 Toulouse, France
Université Paul Sabatier, Institut de Médecine Moléculaire de Rangueil, IFR31, Toulouse, France
Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece
Division of Inherited Cardiovascular Disease, First Department of Cardiology, University of Athens, Athens, Greece
Neurology Department, Aghia Sophia Children's Hospital, Athens, Greece
Neuromuscular Unit, Department of Neurology, University of Athens, Athens, Greece
Search for more papers by this authorConstantinos Skiadas MD, PhD
Neurology Department, Aghia Sophia Children's Hospital, Athens, Greece
Search for more papers by this authorMarina Moraitou PhD
Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece
Search for more papers by this authorPanagiota Manta MD, PhD
Neuromuscular Unit, Department of Neurology, University of Athens, Athens, Greece
Search for more papers by this authorMilan Elleder MD, PhD
Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General Teaching Hospital, Prague, Czech Republic
Search for more papers by this authorCorresponding Author
Thierry Levade MD, PhD
Laboratoire de Biochimie “Maladies Métaboliques,” Institut Fédératif de Biologie, CHU Purpan, Toulouse, France
INSERM U858, Institut de Médecine de Moléculaire de Rangueil, BP 84255, Cedex 4, 31432 Toulouse, France
Université Paul Sabatier, Institut de Médecine Moléculaire de Rangueil, IFR31, Toulouse, France
INSERM U858, Institut de Médecine de Moléculaire de Rangueil, BP 84255, Cedex 4, 31432 Toulouse, FranceSearch for more papers by this authorFrédérique Sabourdy DVM, PhD
Laboratoire de Biochimie “Maladies Métaboliques,” Institut Fédératif de Biologie, CHU Purpan, Toulouse, France
INSERM U858, Institut de Médecine de Moléculaire de Rangueil, BP 84255, Cedex 4, 31432 Toulouse, France
Université Paul Sabatier, Institut de Médecine Moléculaire de Rangueil, IFR31, Toulouse, France
Search for more papers by this authorHelen Michelakakis PhD
Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece
Search for more papers by this authorAris Anastasakis MD, PhD
Division of Inherited Cardiovascular Disease, First Department of Cardiology, University of Athens, Athens, Greece
Search for more papers by this authorVirginie Garcia
INSERM U858, Institut de Médecine de Moléculaire de Rangueil, BP 84255, Cedex 4, 31432 Toulouse, France
Search for more papers by this authorIrene Mavridou PhD
Laboratoire de Biochimie “Maladies Métaboliques,” Institut Fédératif de Biologie, CHU Purpan, Toulouse, France
Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece
Search for more papers by this authorMichèle Nieto
Laboratoire de Biochimie “Maladies Métaboliques,” Institut Fédératif de Biologie, CHU Purpan, Toulouse, France
Search for more papers by this authorMarie-Claude Pons
Laboratoire de Biochimie “Maladies Métaboliques,” Institut Fédératif de Biologie, CHU Purpan, Toulouse, France
INSERM U858, Institut de Médecine de Moléculaire de Rangueil, BP 84255, Cedex 4, 31432 Toulouse, France
Université Paul Sabatier, Institut de Médecine Moléculaire de Rangueil, IFR31, Toulouse, France
Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece
Division of Inherited Cardiovascular Disease, First Department of Cardiology, University of Athens, Athens, Greece
Neurology Department, Aghia Sophia Children's Hospital, Athens, Greece
Neuromuscular Unit, Department of Neurology, University of Athens, Athens, Greece
Search for more papers by this authorConstantinos Skiadas MD, PhD
Neurology Department, Aghia Sophia Children's Hospital, Athens, Greece
Search for more papers by this authorMarina Moraitou PhD
Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece
Search for more papers by this authorPanagiota Manta MD, PhD
Neuromuscular Unit, Department of Neurology, University of Athens, Athens, Greece
Search for more papers by this authorMilan Elleder MD, PhD
Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General Teaching Hospital, Prague, Czech Republic
Search for more papers by this authorCorresponding Author
Thierry Levade MD, PhD
Laboratoire de Biochimie “Maladies Métaboliques,” Institut Fédératif de Biologie, CHU Purpan, Toulouse, France
INSERM U858, Institut de Médecine de Moléculaire de Rangueil, BP 84255, Cedex 4, 31432 Toulouse, France
Université Paul Sabatier, Institut de Médecine Moléculaire de Rangueil, IFR31, Toulouse, France
INSERM U858, Institut de Médecine de Moléculaire de Rangueil, BP 84255, Cedex 4, 31432 Toulouse, FranceSearch for more papers by this authorAbstract
Two families of Greek patients with subclinical to severe cardiomyopathy are presented. The diagnosis of Danon disease was supported by a total lack of LAMP2 immunostaining in cultured skin fibroblasts and muscle biopsies. The LAMP2 mutation carried by one patient (c.928G>A) has already been reported but with different symptoms. The second patient had a novel point deletion. This has not been described previously, but it could be detected easily by restriction analysis. This mutation was also found in the patient's brother, and it was associated with severe cardiomyopathy leading to heart failure. Surprisingly, the proband also had partial reduction of α-galactosidase A activity, despite the absence of characteristic clinical features of Fabry disease. A substitution in the GLA gene (c.937G>T) was found, and its involvement in the cardiac disease is discussed. Muscle Nerve, 2009
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