Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1999 1
2014 1
2015 2
2016 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

3 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Mitochondrial complex 2 deficiency, nuclear type 4"
Page 1
Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.
Abdulhag UN, Soiferman D, Schueler-Furman O, Miller C, Shaag A, Elpeleg O, Edvardson S, Saada A. Abdulhag UN, et al. Eur J Hum Genet. 2015 Feb;23(2):159-64. doi: 10.1038/ejhg.2014.85. Epub 2014 Apr 30. Eur J Hum Genet. 2015. PMID: 24781756 Free PMC article.
Isolated cytochrome c oxidase (COX) deficiency is a prevalent cause of mitochondrial disease and is mostly caused by nuclear-encoded mutations in assembly factors while rarely by mutations in structural subunits. We hereby report a case of isolated COX def …
Isolated cytochrome c oxidase (COX) deficiency is a prevalent cause of mitochondrial disease and is mostly caused by nuclea …
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 conclude that th …
We report a new type of fatal mitochondrial disorder caused by selective deficiency of mitochondrial ATP synthas …
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.
Hallmann K, Kudin AP, Zsurka G, Kornblum C, Reimann J, Stüve B, Waltz S, Hattingen E, Thiele H, Nürnberg P, Rüb C, Voos W, Kopatz J, Neumann H, Kunz WS. Hallmann K, et al. Brain. 2016 Feb;139(Pt 2):338-45. doi: 10.1093/brain/awv357. Epub 2015 Dec 17. Brain. 2016. PMID: 26685157
Isolated cytochrome c oxidase (complex IV) deficiency is one of the most frequent respiratory chain defects in humans and is usually caused by mutations in proteins required for assembly of the complex. ...The mutation, affecting the last nucleotide of intron …
Isolated cytochrome c oxidase (complex IV) deficiency is one of the most frequent respiratory chain defects in humans and is u …