Mitochondrial calcium uniporter deficiency

Synonym(s)
- Myopathy with extrapyramidal signs
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- MICU1 / Mitochondrial Calcium Uptake 1
  10q22.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Mitochondrial calcium uniporter protein
Disease group(s)
- 11.1 Disorders of mitochondrial shuttles and carriers