Home Query References Browse Contact

1 patient data entry collated from reference Bandettini di Poggio et al, 2013.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
583A899T
A899T
sensory ataxic neuropathy, dysarthria, and cophthalmoparesis (SANDO). Dopamine-agonist responsive Parkinsonism. bilateral PEO and ptosis. Healthy until the age of 26. myopathic features. demyelinating sensorymotor neuropathy. Anxiety-mood disorders. cytochrome c oxidase negative muscle fibers. ataxic gait and positive Romberg sign. tremor.
-movement disorder (ataxia)
-sensory ataxia
-cox-negative
-ptosis
-PEO
-parkinson's disease
-dysarthria
-tremor
adult
4826n/a

1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Reference:

References in full format are accessible through the references page.

:.: Privacy Statement :.: Disclaimer :.: Contact Information :.: