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Author Topic:   LHON plus dystonia inquiry
posted 10-09-2005 05:46 PM     Click Here to See the Profile for Administrator     Edit/Delete Message Reply w/Quote
Dear Colleagues,

I would greatly appreciate access to the follow-up information of the patients described in “Shoffner JM, Brown MD, Stugard C, Jun AS, Pollock S, Haas RH,Kaufman A, Koontz D, Kim Y, Graham JR, et al. 1995. Leber’s hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation. Ann Neurol 38:163–169.”.

How has the disease caused by the 14459 mtDNA mutation (Complex I, subunit 6) evolved over time in the Hispanic family, the Caucasian girl and the African-American mother-daughter? Have the silent basal ganglia lesions in the then 19 year old African –American woman remained asymptomatic? Many thanks.

Gabrielle A. Grün, Ph.D. Student
School of Computing Science
Simon Fraser University
8888 University Drive
Burnaby, BC
V5A 1S6 http://www.cs.sfu.ca/~grun
Email: grun@cs.sfu.ca

[This message has been edited by Administrator (edited 10-09-2005).]


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