Hemi dystonia from a mitochondrial mutation in MT-ND6: Hemi dystonia from a mitochondrial mutation in MT-ND6

Amal Abu Libdeh; Aslan Urushanov

doi:10.58877/japaj.v1i2.40

Authors

Amal Abu Libdeh Al-Balqa Applied University
Aslan Urushanov University of Virginia

DOI:

https://doi.org/10.58877/japaj.v1i2.40

Keywords:

Dystonia, Leigh’s disease, movement disorders, neurology, pediatrics.

Abstract

Clinical Video

References

References:

Jun AS, Brown MD, Wallace DC. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proceedings of the National Academy of Sciences. 1994;91(13):6206-6210. doi:10.1073/pnas.91.13.6206

Shoffner JM, Brown MD, Stugard C, et al. Leber’s hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation. Ann Neurol. 1995;38(2):163-169. doi:10.1002/ana.410380207

Watanabe M, Mita S, Takita T, Goto Y, Uchino M, Imamura S. Leber’s hereditary optic neuropathy with dystonia in a Japanese family. J Neurol Sci. 2006;243(1-2):31-34. doi:10.1016/j.jns.2005.11.003

Kirby DM, Kahler SG, Freckmann ML, Reddihough D, Thorburn DR. Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. Ann Neurol. 2000;48(1):102-104.

Gropman A, Chen T-J, Perng C-L, et al. Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation. Am J Med Genet A. 2004;124A(4):377-382. doi:10.1002/ajmg.a.20456