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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 21-01-2020
Symbol C3MTND1
Location 19q12
Name mitochondrial complex III (CIII) deficiency 1
Corresponding gene UQCRFS1
Main clinical features
  • symptoms range from isolated myopathy to severe multi-systemic disorders with early death and disability
  • low CIII activity in fibroblasts, lactic acidosis, fetal bradycardia, hypertrophic cardiomyopathy, and alopecia totalis; also thrombocytopenia and severe anemia, during early infancy, feeding difficulties, muscular hypotonia, and a moderately delayed psychomotor development
  • Genetic determination autosomal recessive
    Function/system disorder cardiovascular
    neuromuscular
    dermatology
    Type MCA/MR
    Remark(s)