MITOMAP: Reported mtDNA Pathogenic Inversion(s)

Last edited: 11/08/2001

Inversion Start (nt) Inversion Stop (nt) Inversion Size (bp)Sorted ascending 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: r1 - 15 Sep 2015, UnknownUser
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