MITOMAP: Reported mtDNA Pathogenic Inversion(s)
Last edited: 11/08/2001
| Inversion Start (nt) |
Inversion Stop (nt) |
Inversion Size (bp) |
Gene(s) Affected |
Amino Acids Affected |
Flanking Structures |
Patient Phenotype |
| 3902 |
3908 |
7 bp |
ND1 |
In-frame substitution: D199G, L200K, A201V |
2-8bp inverted repeats |
Mitochondrial Myopathy |
Reference: Musumeci, O., Andreu, A.L., Shanske, S., Bresolin, N., Comi, G.P., Rothstein, R., Schon, E.A. and DiMauro, S. (2000).
"Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy." American Journal of Human Genetics 66(6):1900-1904.
Topic revision: r4 - 15 May 2009 - 11:22:36 -
YvonneLeong
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