1 | SDHB, SDHBD |
Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling. | |
Grønborg S, Darin N, Miranda MJ, Damgaard B, Cayuela JA, Oldfors A, Kollberg G, Hansen TV, Ravn K, Wibrand F, Østergaard E. | |
JIMD Rep IMD Rep. 2016 Sep 8. [Epub ahead of print] 2016 | |
2 | SDHA, SDHAD, SDHB, SDHBD |
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. | |
Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He L, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW. | |
J Med Genet 49(9):569-77. doi: 10.1136/jmedgenet-2012-101146. 2012 | |