1Stacy M, Comella C, Leon DD.Dopa-responsive dystonia[OL]. www.wemove.org, 2004-11-21.
2Verma R, Misra S, Singh NN, et al. Patient with limb girdle dystrophy presenting with dopa-responsive dystonia-A case report[J]. Neurology India, 2003, 51:252-253.
3Furukawa Y. Dopa-Responsive Dystonia[OL]. Gene Reviews,www.genetests.org, 2004-06-15.
4Nygaard TG. Dopa-responsive dystonia: the spectrum of clinical manifestation in a large North American family[J]. Neurology,1990,40:669.
8Ludecke B, Dworniczak B, Bartholomé K. A point mutation in the Tyrosine Hydroxylase gene associated with Segawa's syndrome[J]. Hum Genet, 1995, 95: 123-125.
9Furukawa Y, Kish SJ. Dopa-responsive dystonia: recent advances and remaining issues to be addressed[J]. Mov Disord, 1999, 14(5): 709-715.
10Takahashi H, Levine RA, Galloway MP. Biochemical and fluorodopa positron emission tomographic findings in an asymptomatic carrier of the gene for dopa-responsive dystonia[J]. Ann Neurol, 1994, 35(3): 354-356.
2de Groot JG, Arts WF. Familial myopathy with tubular aggregates. J Neurol, 1982, 227: 35-41.
3North KN. Congenital Myopathies//Engel AG, Franzini-Armstrong C. Myology. 3rd ed. New York: Mc Graw-Hill, 2003: 1505-1508.
4Muller HD, Vielhaber S, Brunn A, et al. Dominantly inherited myopathy with novel tubular aggregates containing 1-21 tubulofilamentous structures. Aeta Neuropathol, 2001, 102: 27-35.
5Furui E, Fukushima K, Sakashita T, et at. Familial limb-girdle myasthenia with tubular aggregates. Muscle Nerve, 1997, 20: 599-603.
6Chevessier F, Bauche-Godard S, Leroy JP, et al. The origin of tubular aggregates in human myopathies. J Pathol, 2005, 207: 313-323.
7Miller TM, Dias da Silva MR, Miller HA, et al. Correlating phenotype and genotype in the periodic paralyses. Neurology, 2004, 63: 1647-1655.
8Mahjneh I, Lamminen A, Tuominen H. Episodic muscle pain, stiffness, and weakness associated with tubular aggregates and myoedema. Eur J Neurol, 2007, 14: 569-571.
9Oh SJ, Park KS, Ryan HF Jr, et al. Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency. Muscle Nerve, 2006, 34 : 572-576.
10Kim NR, Suh YL. Tubular aggregate myopathy: a case report. J Korean Med Sci, 2003, 18:135-140.
