"Human Molecular Genetics" . . "Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 e subunit"@en . "RIV/67985823:_____/10:00355559" . "Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 e subunit" . . "N\u016Fskov\u00E1, Hana" . . "Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 e subunit" . . "Mayr, J. A." . "Pecinov\u00E1, Alena" . . . "0964-6906" . "Sperl, W." . . . . . "Mutation in ATP5E gene has been found to cause isolated deficiency of ATP synthase resulting in a novel type of human mitochondrial disease with peripheral neuropathy. Mutated subunit epsilon does not influence biochemical function of ATP synthase complex but inhibits its biogenesis and assembly. This is the first case of mitochondrial disease due to mutation in nuclear encoded subunit of ATP synthase" . "Zimmermann, F." . . . "10"^^ . . "Koch, J." . "271598" . "Havl\u00ED\u010Dkov\u00E1, Vendula" . "Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 e subunit"@en . "Mutation in ATP5E gene has been found to cause isolated deficiency of ATP synthase resulting in a novel type of human mitochondrial disease with peripheral neuropathy. Mutated subunit epsilon does not influence biochemical function of ATP synthase complex but inhibits its biogenesis and assembly. This is the first case of mitochondrial disease due to mutation in nuclear encoded subunit of ATP synthase"@en . "[1FCA5B5485FF]" . . . . "280704800012" . "GB - Spojen\u00E9 kr\u00E1lovstv\u00ED Velk\u00E9 Brit\u00E1nie a Severn\u00EDho Irska" . "P(1M0520), P(NS9759), Z(AV0Z50110509)" . "17" . . "19" . . "RIV/67985823:_____/10:00355559!RIV11-MSM-67985823" . "Hou\u0161t\u011Bk, Josef" . . . "ATP-synthase; ATP5E; disease"@en . . "11"^^ . . . "Kaplanov\u00E1, Vilma" . "Magler, I." . "Je\u0161ina, Pavel" . "6"^^ .