New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ1...
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts
About this item
Full title
Author / Creator
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
COQ4 is a component of an enzyme complex involved in the biosynthesis of coenzyme Q
10
(CoQ
10
), a molecule with primary importance in cell metabolism. Mutations in the
COQ4
gene are responsible for mitochondrial diseases showing heterogeneous age at onset, clinical presentations and association with CoQ
10
deficiency. We h...
Alternative Titles
Full title
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2500374631
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2500374631
Other Identifiers
ISSN
0340-5354
E-ISSN
1432-1459
DOI
10.1007/s00415-021-10509-6
