Dong-Hui Ge

Clinical and genetic analysis of multiple mitochondrial dysfunctions syndrome type 6 caused by biallelic PMPCB variants in children

Multiple mitochondrial dysfunction syndrome 6 (MMDS6), caused by pathogenic variants in the PMPCB gene, is a rare autosomal recessive disorder. To date, only three studies describing a total of seven patients with MMDS6 have been published. In this report, we describe two siblings with MMDS6 who presented with sign...