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GENATLAS PHENOTYPE
last update : 15/12/2008
Symbol CEML
Location 22q13.33
Name cardioencephalomyopathy lethal
Corresponding gene SCO2
Main clinical features
  • prenatal-onset hypertrophic cardiomyopathy
  • characterized by hypertrophic cardiomyopathy, lactic acidosis, and gliosis, heart and skeletal muscle showed reductions in COX activity, whereas liver and fibroblasts had mild COX deficiencies and absence of ragged-red fibers, mimicking spinal muscular atrophy type 1
    • Genetic determination autosomal recessive
    Function/system disorder cardiovascular
    neuromuscular
    neurology
    Type disease
    Gene product
    Name COX assembly gene SCO2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown E140K, may also be associated with early spontaneous abortions and fetal wastage
    nonsense   unknown  
    Remark(s)