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SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (SANDO)

SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (SANDO)
SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
607459
OMIM = Online Mendelian Inheritance of Men
70595
DNA polymerase subunit gamma-1
15q26.1
G31.81
rare
autosomal recessive
mutation in the nuclear-encoded DNA polymerase-gamma gene
Laboratory findings    Creatine kinase inc (serum)
    L-Lactic acid inc (plasma)
Symptoms    ataxia
    cardiomyopathy
    cardiomyopathy, dilated
    cataract
    cognitive impairment
    depression
    dysarthria
    headache (severe, recurrent or occipital, migraine)
    hearing defect, deafness
    hyporeflexia
    lactic acidosis
    muscle weakness
    myoclonus
    myopathy
    neuropathy
    nystagmus
    onset, adulthood
    ophthalmoparesis
    seizures