Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase.
Autosomal dominant PEO is associated with mutations in a number of nuclear genes affecting the intergenomic communication with mitochondrial DNA. We report a Spanish family showing a mild phenotype characterized by autosomal dominant ocular myopathy and morphological signs of mitochondrial dysfunction, that harboured a novel c.1071G>C (p.R357P) mutation in the hot-spot linker region of the twinkle protein.
Rivera
Henry
H
Centro de Investigación, Hospital Universitario 12 de Octubre, Av. de Córdoba s/n, 28041 Madrid, Spain.
Blázquez
Alberto
A
Carretero
Julián
J
Alvarez-Cermeño
José C
JC
Campos
Y
Y
Cabello
Ana
A
Gonzalez-Vioque
Emiliano
E
Borstein
Belén
B
Garesse
Rafael
R
Arenas
Joaquín
J
Martín
Miguel A
MA
D000368:Aged; D001120:Arginine / Q000235:genetics; D004265:DNA Helicases / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D024101:Mitochondrial Proteins; D009154:Mutation / Q000235:genetics*; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics*; D010641:Phenotype; D011392:Proline / Q000235:genetics; D013030:Spain
D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins; D001120:Arginine; D011392:Proline; D004265:DNA Helicases; C431576:TWNK protein, human