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References OMIM Gene GeneReviews HGMD HGNC
last update : 26-05-2016
Symbol MICU1D
Location 10q22.1
Name MICU1 deficiency
Other name(s) Myopathy with extrapyramidal signs
Corresponding gene MICU1
Other symbol(s) MPXPS
Main clinical features
  • cause fatigue and lethargy in patients with normal mitochondrial enzyme activities in muscle
  • early childhood onset of proximal muscle weakness and learning disabilities; while the muscle weakness is static, most patients develop progressive extrapyramidal signs that may become disabling
  • laboratory studies showed increased serum creatine kinase, and muscle biopsy showed a myopathic process with diffuse variation in fiber size, increased frequency of internal and central nuclei, and clusters of regenerating fibers
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Remark(s) . fluctuating clinical course is likely mediated through the mitochondrial calcium uniporter, which is regulated by MICU1 (PMID: 27123478))