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 |