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.