Danon disease: A novel Lamp-2 gene mutation in a family with four affected members
Tài liệu tham khảo
Nishino, 2003, Autophagic vacuolar myopathies, Curr Neurol Neurosci Rep, 3, 64, 10.1007/s11910-003-0040-y
Neuromuscular disorders: Gene location. Table prepared by JC Kaplan. Neuromusc Disord 2006; 16(1):64-90.
Danon, 1981, Lysosomal glycogen storage disease with normal acid maltase, Neurology, 31, 51, 10.1212/WNL.31.1.51
Prall, 2006, Ophthalmic manifestations of Danon disease, Ophthalmology, 113, 1010, 10.1016/j.ophtha.2006.02.030
Charron, 2004, Danon’s disease as a cause of hypertrophic cardiomyopathy: a systematic survey, Heart, 90, 842, 10.1136/hrt.2003.029504
Nishino, 2000, Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease), Nature, 406, 906, 10.1038/35022604
Balmer, 2005, Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2 gene, Eur J Pediatr, 164, 509, 10.1007/s00431-005-1678-z
Lacoste-Collin, 2002, Danon’s disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation, Neuromusc Disord, 12, 882, 10.1016/S0960-8966(02)00179-7
Sugie, 2003, Characterization of Danon disease in a male patient and his affected mother, Neuromusc Disord, 13, 708, 10.1016/S0960-8966(03)00105-6
Lobrinus, 2005, Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease), Neuromusc Disord, 15, 293, 10.1016/j.nmd.2004.12.007
Sugie, 2002, Clinicopathological features of genetically confirmed Danon disease, Neurology, 58, 1773, 10.1212/WNL.58.12.1773
Arad, 2005, Glycogen storage diseases presenting as hypertrophic cardiomyopathy, N Engl J Med, 352, 362, 10.1056/NEJMoa033349
Sugie, 2005, Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies, J Neuropathol Exp Neurol, 64, 513, 10.1093/jnen/64.6.513
Sladky, 2001, Histopathological features of peripheral nerve and muscle in mitochondrial disease, Semin Neurol, 21, 293, 10.1055/s-2001-17946
Fernandez, 1999, Adult glycogenosis II with paracrystalline mitochondrial inclusions and Hirano bodies in skeletal muscle, Neuromusc Disord, 9, 136, 10.1016/S0960-8966(98)00117-5
Marbini, 1987, Mitochondrial paracrystalline inclusions in the peroneus brevis muscle of patients with peripheral neuropathy, Clin Neuropathol, 6, 38
Malandrini, 2002, Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL, Neurology, 59, 617, 10.1212/WNL.59.4.617
Lloreta, 1996, Selective diaphragmatic mitochondrial abnormalities in a patient with marked air flow obstruction, Ultrastruct Pathol, 20, 67, 10.3109/01913129609023240
Gomez Làzaro, 1972, Intramitochondrial paracrystalline inclusions in hepatocytes of patients with biliary lithiasis, Lancet, 2, 1417, 10.1016/S0140-6736(72)92985-6
Tarnopolsky, 2004, Attenuation of free radical production and paracrystalline inclusions by creatine supplementation in a patient with a novel cytochrome b mutation, Muscle Nerve, 29, 537, 10.1002/mus.20020
Dalakas, 1990, Mitochondrial myopathy caused by long-term zidovudine therapy, N Engl J Med, 322, 1098, 10.1056/NEJM199004193221602
Echaniz-Laguna, 2006, Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease, Muscle Nerve, 33, 393, 10.1002/mus.20471
Yang, 2005, Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children, Circulation, 112, 1612, 10.1161/CIRCULATIONAHA.105.546481