Ontology highlight
ABSTRACT:
SUBMITTER: Alstrup M
PROVIDER: S-EPMC8100402 | biostudies-literature | 2021 May
REPOSITORIES: biostudies-literature
Alstrup Morten M Vogel Ida I Sandager Puk P Blechingberg Jenny J Becher Naja N Østergaard Elsebet E
JIMD reports 20210305 1
The C1QBP protein (complement component 1 Q subcomponent-binding protein), encoded by the C1QBP gene, is a multifunctional protein predominantly localized in the mitochondrial matrix. Biallelic variants have previously been shown to give rise to combined respiratory-chain deficiencies with variable phenotypic presentation, severity, and age at onset, from intrauterine with a mostly lethal course, to a late-onset mild myopathy. We present two fetuses, one male and one female, of first-cousin pare ...[more]