Case report
Open access
Aug 2026
The long road to diagnosis: recessive PMPCB deficiency hidden behind a dominant familial VCP defect
Multiple mitochondrial dysfunctions syndrome 6 (MMDS6), caused by biallelic likely pathogenic variants in PMPCB, is an extremely rare autosomal recessive childhood-onset neurodegenerative disorder, with only six reported cases to date, most resulting in early mortality. Pathogenic variants in VCP cause multisystem prot...
Reme Unuakhalu, Alexandra Purcell, Ishaan Jindal et al.
· Molecular Genetics and Metab... · 0 citations