Rhabdomyolysis and Metabolic Myopathy
Gene: C1QBP
Highly variable phenotype, at least 4 unrelated families reported.Created: 8 Dec 2021, 7:30 a.m. | Last Modified: 8 Dec 2021, 7:30 a.m.
Panel Version: 0.10169
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 33, MIM# 617713
Publications
Comment on list classification: Exercise intolerance is a presenting featureCreated: 12 Apr 2023, 3:45 a.m. | Last Modified: 12 Apr 2023, 3:45 a.m.
Panel Version: 0.97
Four unrelated cases with progressive external opthalmoplegia and myopathy, and homozygous variants. Muscle biopsies and expression assays supportive of a mitochondrial myopathy. Three of the cases are adult-onset.
Sources: LiteratureCreated: 26 Oct 2020, 8:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Progressive external opthalmoplegia; mitochondrial myopathy
Publications
Gene: c1qbp has been classified as Green List (High Evidence).
Phenotypes for gene: C1QBP were changed from to Progressive external opthalmoplegia; mitochondrial myopathy
Publications for gene: C1QBP were set to
Gene: c1qbp has been classified as Green List (High Evidence).
gene: C1QBP was added gene: C1QBP was added to Rhabdomyolysis. Sources: Literature Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal