Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion
Orly Elpeleg(Hadassah Medical Center), Ann Saada(Jerusalem College of Technology), Eli Hershkovitz(Soroka Medical Center), Shamima Rahman(Great Ormond Street Hospital for Children NHS Foundation Trust), Alistair T. Pagnamenta(University College London), Maria Bitner‐Glindzicz, Chaya Miller(Shaare Zedek Medical Center), Sharon Eshhar(Shaare Zedek Medical Center), Gili Bondi-Rubinstein(Shaare Zedek Medical Center)
Cited by 313
Related Papers
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
|Nature Genetics|2001|618
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
|Nature Genetics|2001|584
GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study
|The American Journal of Human Genetics|2005|558
Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene <i>POU3F4</i>
|Science|1995|449
Childhood Obesity
|The Journal of Clinical Endocrinology & Metabolism|2005|416