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Mitochondrial complex III deficiencies in the newborn infant.

Fellman, Vineta LU orcid (2006) In Drug Discovery Today: Disease Mechanisms 3(4). p.421-427
Abstract
New mechanisms for respiratory chain complex III diseases have recently been reported. Deletions, rearrangements and tRNA mutations of mitochondrial DNA cause deficiencies in several complexes. Mutations in the only complex III subunit encoded by mitochondrial DNA, cytochrome b, cause variable clinical phenotypes, such as cardiomyopathy or multisystemic dysfunction after birth. The homozygous serine78alanine mutation in the complex III assembling protein, BCS1L, causes a distinct phenotype, the GRACILE syndrome, whereas in other BCS1L mutations, the clinical picture is variable, but tubulopathy and liver dysfunction are typical.
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Drug Discovery Today: Disease Mechanisms
volume
3
issue
4
pages
421 - 427
publisher
Elsevier
external identifiers
  • scopus:33847053331
ISSN
1740-6765
DOI
10.1016/j.ddmec.2006.11.007
language
English
LU publication?
yes
id
72ee9996-820b-40e4-9a5d-28f8d89e7ad6 (old id 1136505)
date added to LUP
2016-04-01 16:56:21
date last changed
2020-01-12 19:53:06
@article{72ee9996-820b-40e4-9a5d-28f8d89e7ad6,
  abstract     = {New mechanisms for respiratory chain complex III diseases have recently been reported. Deletions, rearrangements and tRNA mutations of mitochondrial DNA cause deficiencies in several complexes. Mutations in the only complex III subunit encoded by mitochondrial DNA, cytochrome b, cause variable clinical phenotypes, such as cardiomyopathy or multisystemic dysfunction after birth. The homozygous serine78alanine mutation in the complex III assembling protein, BCS1L, causes a distinct phenotype, the GRACILE syndrome, whereas in other BCS1L mutations, the clinical picture is variable, but tubulopathy and liver dysfunction are typical.},
  author       = {Fellman, Vineta},
  issn         = {1740-6765},
  language     = {eng},
  number       = {4},
  pages        = {421--427},
  publisher    = {Elsevier},
  series       = {Drug Discovery Today: Disease Mechanisms},
  title        = {Mitochondrial complex III deficiencies in the newborn infant.},
  url          = {http://dx.doi.org/10.1016/j.ddmec.2006.11.007},
  doi          = {10.1016/j.ddmec.2006.11.007},
  volume       = {3},
  year         = {2006},
}