Cytoskeletal structure in cells harboring two mutations: R133C in NOTCH3 and 5650G>A in mitochondrial DNA.

@article{AnnunenRasila2007CytoskeletalSI,
  title={Cytoskeletal structure in cells harboring two mutations: R133C in NOTCH3 and 5650G>A in mitochondrial DNA.},
  author={Johanna Annunen-Rasila and Mikko K{\"a}rpp{\"a} and Saara M Finnil{\"a} and Heli Yl{\"a}-Outinen and Johanna Veijola and Hannu Tuominen and Juha M. Peltonen and Kari Majamaa},
  journal={Mitochondrion},
  year={2007},
  volume={7 1-2},
  pages={96-100}
}
We have previously described a patient with cerebral autosomal-dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) caused by R133C mutation in NOTCH3 and with a concomitant myopathy caused by a G to A point mutation at base pair 5650 (5650G>A) in the gene encoding tRNA(Ala) in mitochondrial DNA (mtDNA). In the present study, we have examined the morphology of the cytoskeletal components in fibroblasts and myoblasts of this patient. Immunolabeling revealed that… CONTINUE READING