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GENATLAS PHENOTYPE
last update : 01- 02-2022
Symbol AMS1
Location 15q26.1
Name ataxia-myopathy syndrome 1
Other name(s) mitochondrial recessive ataxia syndrome
Corresponding gene POLG
Other symbol(s) MIRAS
Main clinical features
  • cerebellar ataxia with juvenile-onset ptosis and gait disturbance, late onset of 5–41 years , variant, ranging from late-onset polyneuropathy to acute encephalopathy of adolescence
  • neuronal complex I (CI)-defect ((Hakonen 2008)
    • Genetic determination autosomal dominant
    Function/system disorder neurology
    neuromuscular
    Type disease
    Gene product
    Name polymerase (DNA directed), gamma
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown     W748S mutation
    Remark(s)