The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) geneKlaus Gempel, Rita Horváth, Benedikt Schoser et al.|Brain|2007Cited by 319
Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline MyopathyGianina Ravenscroft, Alan H. Beggs, Satoko Miyatake et al.|The American Journal of Human Genetics|2013Cited by 224