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Quoted phrase not found in phrase index: "Mitochondrial complex V (ATP synthase) deficiency nuclear type 2"
Page 1
A novel deficiency of mitochondrial ATPase of nuclear origin.
Houstek J, Klement P, Floryk D, Antonická H, Hermanská J, Kalous M, Hansíková H, Hout'ková H, Chowdhury SK, Rosipal T, Kmoch S, Stratilová L, Zeman J. Houstek J, et al. Hum Mol Genet. 1999 Oct;8(11):1967-74. doi: 10.1093/hmg/8.11.1967. Hum Mol Genet. 1999. PMID: 10484764
We report a new type of fatal mitochondrial disorder caused by selective deficiency of mitochondrial ATP synthase (ATPase). ...Likewise, the pattern of [(35)S]methionine labelling of ATPase was found to be normal in patient cybrids. We co …
We report a new type of fatal mitochondrial disorder caused by selective deficiency of mitochondrial ATP …
Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency.
Mackay L, Gijavanekar C, Streff H, Price JF, Elsea SH, Scaglia F. Mackay L, et al. Am J Med Genet A. 2023 May;191(5):1366-1372. doi: 10.1002/ajmg.a.63131. Epub 2023 Feb 7. Am J Med Genet A. 2023. PMID: 36751706
TMEM70 deficiency causing mitochondrial complex V deficiency, nuclear type 2 (MIM: 614052) is the most common nuclear encoded defect affecting ATP synthase and has been well described in the literature a …
TMEM70 deficiency causing mitochondrial complex V deficiency, nuclear type 2 (MIM: 6 …