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References OMIM Gene GeneReviews HGMD HGNC
last update : 23-05-2019
Symbol TIMM22D
Location 17p13.3
Name TIMM22 deficiency
Corresponding gene TIMM22
Main clinical features
  • early-onset mitochondrial myopathy, hypotonia, gastroesophageal reflux disease and persistently elevated serum and Cerebrospinal fluid lactate (CSF)
  • patient fibroblasts displayed reduced oxidative capacity and altered mitochondrial morphology
  • Genetic determination not applicable
    Function/system disorder multisystem/generalized
    Type disease
  • pathogenic variants in the TIMM22 pore-forming subunit of the carrier translocase affecting the biogenesis of inner mitochondrial membrane proteins critical for metabolite exchange (PMID: 30452684))