Spinal muscular atrophy and mitochondrial DNA depletion. Response to Berber et al. (2003) Acta Neuropathol 105:245-251.
Mancuso
M
M
Filosto
M
M
Hirano
M
M
DiMauro
S
S
D002648:Child; D003402:Creatine Kinase / Q000378:metabolism; D003545:Cysteine / Q000235:genetics; D004272:DNA, Mitochondrial / Q000032:analysis*; D003937:Diagnosis, Differential; D004576:Electromyography / Q000379:methods; D005998:Glycine / Q000235:genetics; D006801:Humans; D043322:Lactase; D008931:Mitochondria, Muscle / Q000378:metabolism*; D018482:Muscle, Skeletal / Q000378:metabolism; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009154:Mutation; D013385:Succinate Dehydrogenase / Q000378:metabolism; D013937:Thymidine Kinase / Q000235:genetics; D001616:beta-Galactosidase / Q000097:blood
D004272:DNA, Mitochondrial; D013385:Succinate Dehydrogenase; C105339:thymidine kinase 2; D013937:Thymidine Kinase; D003402:Creatine Kinase; D043322:Lactase; D001616:beta-Galactosidase; D003545:Cysteine; D005998:Glycine