Complementary mutations in seipin gene in a patient with Berardinelli-Seip congenital lipodystrophy and dystonia: phenotype variability suggests multiple roles of seipin gene

Wu, Y.-R.; Hung, S.-I.; Chang, Y.-C.; Chen, S.-T.; Lin, Y.-L.; Chung, W.-H.
October 2009
Journal of Neurology, Neurosurgery & Psychiatry;Oct2009, Vol. 80 Issue 10, p7
Academic Journal
The article discusses the neurological manifestations of Berardinelli-Seip congenital lipodystrophy (BSCL), which carried compound heterozygous mutation in the seipin gene. The author emphasized that silver syndrome, Charcot-Marie-Tooth disease, distal hereditary motor neuropathy, spastic paraplegia and mental retardation were examples of the disease's manifestations. A case of report of a 28-year-old man who admitted to the hospital because of progressive gait disturbance is also elaborated.


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