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PET117 CYTOCHROME c OXIDASE CHAPERONE; PET117

PET117 CYTOCHROME c OXIDASE CHAPERONE; PET117
614771
OMIM = Online Mendelian Inheritance of Men
Protein PET117 homolog, mitochondrial
20p11.23
mutations in PET117 as a novel cause of mitochondrial disease [Renkema GH 2017]
Laboratory findings    Creatine normal/inc (urine)
    Creatine inc (plasma)
    D-Lactic acid inc (blood)
    Glycine inc (plasma)
    Guanidinoacetic acid / Guanidinoacetate inc (plasma)
    Guanidinoacetic acid / Guanidinoacetate normal/inc (urine)
Symptoms    hypokinesia
    motor retardation
    MRI, brain, abnormalities [-]
    onset, adolescent
    onset, childhood
    pyramidal signs
    speech development, delayed, abnormal