Dominant and recessive RRM2B mutations cause familial PEO and multiple mtDNA deletions in muscle (2011)

Author(s): Fratter C, Raman P, Alston C, Blakely EL, Craig K, Smith C, Evans J, Seller A, Czermin B, Hanna MG, Poulton J, Brierley C, Staunton TG, Turnpenny PD, Schaefer AM, Chinnery PF, Horvath R, Turnbull DM, Gorman GS, Taylor RW

      • Date: 29-30 March 2011
      • Conference Name: Neuromuscular Disorders: United Kingdom Neuromuscular Translational Research Conference
      • Volume: 21 (s1)
      • Pages: S23
      • Publisher: Elsevier Ltd
      • Publication type: Conference Proceedings (inc. abstract)
      • Bibliographic status: Published