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M. Naumann, R. Kiefer, K. Toyka, C. Sommer, P. Seibel, H. Reichmann (1997)
Mitochondrial dysfunction with myoclonus epilepsy and ragged‐red fibers point mutation in nerve, muscle, and adipose tissue of a patient with multiple isymmetric lipomatosisMuscle & Nerve, 20
S. Berkovic, F. Andermann, E. Shoubridge, S. Carpenter, Y. Robitaille, E. Andermann, C. Melmed, G. Karpati (1991)
Mitochondrial dysfunction in multiple symmetrical lipomatosisAnnals of Neurology, 29
S. Hammans, M. Sweeney, M. Brockington, G. Lennox, N. Lawton, C. Kennedy, J. Morgan-Hughes, A. Harding (1993)
The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.Brain : a journal of neurology, 116 ( Pt 3)
A. Muñoz, J. Lorite (1998)
Tratamiento de las enfermedades mitocondrialesRevista De Neurologia, 26
Ciafaloni Ciafaloni, Shanske Shanske, Apostolski Apostolski, Griggs Griggs, Bird Bird, DiMauro DiMauro (1991)
Multiple deletions of mitochondrial DNANeurology, 41
J. Shoffner, M. Lott, A. Lezza, P. Seibel, S. Ballinger, D. Wallace (1990)
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutationCell, 61
Y. Campos, R. Huertas, G. Lorenzo, J. Bautista, E. Gutierrez, M. Aparicio, L. Alesso, J. Arenas (1993)
Plasma carnitine insufficiency and effectiveness of L‐carnitine therapy in patients with mitochondril myopathyMuscle & Nerve, 16
Y. Campos, Miguel Martín, C. Navarro, P. Gordo, J. Arenas (1996)
Single large-scale mitochondrial DNA deletion in a patient with mitochondrial myopathy associated with multiple symmetric lipomatosisNeurology, 47
T. Klopstock, M. Naumann, B. Schalke, F. Bischof, P. Seibel, M. Kottlors, P. Eckert, K. Reiners, K. Toyka, H. Reichmann (1994)
Multiple symmetric lipomatosisNeurology, 44
G. Enzi (1984)
Multiple Symmetric Lipomatosis: An Updated Clinical ReportMedicine, 63
J. Träff, E. Holme, K. Ekbom, B. Nilsson (1995)
Ekbom's syndrome of photomyoclonus, cerebellar ataxia and cervical lipoma is associated with the tRNALys A8344G mutation in mitochondrial DNAActa Neurologica Scandinavica, 92
P. Calabresi, Gabriella Silvestri, S. Dimauro, R. Griggs (1994)
Ekbom's syndrome: Lipomas, ataxia, and neuropathy with MERRFMuscle & Nerve, 17
G. Enzi, C. Angelini, P. Negrin, M. Armani, S. Pierobon, D. Fedele (1985)
Sensory, Motor, and Autonomic Neuropathy in Patients with Multiple Symmetric LipomatosisMedicine, 64
N. Larsson, M. Tulinius, E. Holme, A. Oldfors (1995)
Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomasMuscle & Nerve, 18
Paul Matthews, M. Squier, C. Chalk, Michael Donaghy (1995)
Mitochondrial abnormalities are not invariably present in neurologic syndromes associated with multiple symmetric lipomatosisNeurology, 45
S. Austin, F. Vriesendorp, F. Thandroyen, J. Hecht, O. Jones, D. Johns (1998)
Expanding the phenotype of the 8344 transfer RNAlysine mitochondrial DNA mutationNeurology, 51
E. Ciafaloni, E. Ricci, S. Servidei, S. Shanske, G. Silvestri, G. Manfredi, E. Schon, S. DiMauro (1991)
Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndromeNeurology, 41
C. Feliciani, P. Amerio (1999)
Madelung's Disease: Inherited from an Ancient Mediterranean Population?The New England Journal of Medicine, 340
M. Naumann, B. Schalke, T. Klopstock, H. Reichmann, K. Lange, G. Wiesbeck, K. Toyka, K. Reiners (1995)
Neurological multisystem manifestation in multiple symmetric lipomatosis: A clinical and electrophysiological studyMuscle & Nerve, 18
C. Zancanaro, A. Sbarbati, M. Morroni, R. Carraro, M. Cigolini, G. Enzi, S. Cinti (1990)
Multiple symmetric lipomatosis. Ultrastructural investigation of the tissue and preadipocytes in primary culture.Laboratory investigation; a journal of technical methods and pathology, 63 2
Berkovic Berkovic, Carpenter Carpenter, Evans Evans, Karpati Karpati, Shoubridge Shoubridge, Andermann Andermann, Tyler Tyler, Diksic Diksic, Arnold Arnold, Wolfe Wolfe, Andermann Andermann, Hakim Hakim (1989)
Myoclonus epilepsy and ragged‐red fibers (MERRF). 1. A clinical, pathological, biochemical and positron emission tomography studyBrain, 112
G. Silvestri, E. Ciafaloni, F. Santorelli, S. Shanske, S. Servidei, W. Graf, M. Sumi, S. DiMauro (1993)
Clinical features associated with the A → G transition at nucleotide 8344 of mtDNA (“MERRF mutation”)Neurology, 43
J. Masucci, E. Schon, M. King (1997)
Point mutations in the mitochondrial tRNA Lys gene: Implications for pathogenesis and mechanismMolecular and Cellular Biochemistry, 174
S. Berkovic, E. Shoubridge, F. Andermann, E. Andermann, S. Carpenter, G. Karpati (1991)
Clinical spectrum of mitochondrial DNA mutation at base pair 8344The Lancet, 338
N. So, S. Berkovic, F. Andermann, R. Kuzniecky, D. Gendron, L. Quesney (1989)
Myoclonus epilepsy and ragged-red fibres (MERRF). 2. Electrophysiological studies and comparison with other progressive myoclonus epilepsies.Brain : a journal of neurology, 112 ( Pt 5)
Elisabeth Holme, Nils‐Göran Larsson, Anders Oldfors, Mir Tulinius, P. Sahlin, Goran Stenman (1993)
Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.American journal of human genetics, 52 3
M. Kaido, H. Fujimura, A. Ono, K. Toyooka, H. Yoshikawa, T. Nishimura, K. Ozaki, I. Narama, M. Kuwajima (1997)
Mitochondrial abnormalities in a murine model of primary carnitine deficiency. Systemic pathology and trial of replacement therapy.European neurology, 38 4
C. Casali, G. Fabrizi, F. Santorelli, G. Colazza, M. Villanova, M. Dotti, T. Cavallaro, E. Cardaioli, C. Battisti, L. Manneschi, G.C. DiGennaro, D. Fortini, M. Spadaro, C. Morocutti, A. Federico (1999)
Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian familyNeurology, 52
G. Shelton, W. Nyhan, P. Kass, B. Barshop, R. Haas (1998)
Analysis of organic acids, amino acids, and carnitine in dogs with lipid storage myopathyMuscle & Nerve, 21
S. Berkovic, S. Carpenter, A. Evans, G. Karpati, E. Shoubridge, F. Andermann, E. Meyer, J. Tyler, M. Diksic, D. Arnold, L. Wolfe, E. Andermann, A. Hakim (1989)
Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study.Brain : a journal of neurology, 112 ( Pt 5)
Klopstock Klopstock, Naumann Naumann, Seibel Seibel, Shalke Shalke, Reiners Reiners, Reichmann Reichmann (1997)
Mitochondrial DNA mutations in multiple symmetric lipomatosisMol Cell Biochem, 174
J. Gámez, A. Playán, A. Andreu, C. Bruno, C. Navarro, C. Cervera, M. Arbos, S. Schwartz, J. Enríquez, J. Montoya (1998)
Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNANeurology, 51
Klopstock Klopstock, Naumann Naumann, Schalke Schalke, Bischof Bischof, Seibel Seibel, Kottlors Kottlors, Eckert Eckert, Reiners Reiners, Toyka Toyka, Reichmann Reichmann (1994)
Multiple symmetric lipomatosis: abnormalities in complex IV and multiple deletions in mitochondrial DNANeurology, 44
Multiple symmetric lipomatosis (MSL) has been related in some cases to the 8344 point mutation of the tRNA‐lysine gene of the mitochondrial DNA, mainly in the context of families with classic myoclonic epilepsy with ragged‐red fibers (MERRF) and exceptionally in patients with proximal myopathy as the only manifestation of mitochondrial disease. We report on two families harboring the 8344 mutation. The patients presented with MSL and myopathy, expressed as limb girdle weakness in index cases and as exercise intolerance in the others. All muscle biopsies performed showed lipid storage apart from RRF and respiratory chain complexes deficiency. A possible explanation for both adipose proliferation and lipid storage myopathy in these cases is a disturbance in intermediary lipid metabolism secondary to mitochondrial respiratory chain deficiency that could be related via carnitine deficiency. © 2000 John Wiley & Sons, Inc. Muscle Nerve 23: 538–542, 2000.
Muscle and Nerve – Wiley
Published: Apr 1, 2000
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