Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

Pitceathly RDS., Smith C., Fratter C., Alston CL., He L., Craig K., Blakely EL., Evans JC., Taylor J., Shabbir Z., Deschauer M., Pohl U., Roberts ME., Jackson MC., Halfpenny CA., Turnpenny PD., Lunt PW., Hanna MG., Schaefer AM., McFarland R., Horvath R., Chinnery PF., Turnbull DM., Poulton J., Taylor RW., Gorman GS.

DOI

10.1093/brain/aws231

Type

Journal article

Journal

Brain

Publisher

Oxford University Press (OUP)

Publication Date

11/2012

Volume

135

Pages

3392 - 3403

Permalink Original publication