Case report
Open access
Aug 2026
The long road to diagnosis: recessive PMPCB deficiency hidden behind a dominant familial VCP defect
The case of a 23-year-old female with two likely pathogenic variants presumed to be in trans in PMPCB and a co-occurring pathogenic VCP variant, strong supporting a diagnosis of multiple mitochondrial dysfunctions syndrome 6, is described.
Reme Unuakhalu, Alexandra Purcell, Ishaan Jindal et al.
· Molecular Genetics and Metab... · 0 citations