Home Query References Browse Contact

1 patient data entry in database for mutations R1096C and A467T.

allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, ragged red fibers, presence of mitochondrial dna deletions in muscle, Sensory and motor neuronopathy, Distal and proximal neurogenic change
-peripheral neuropathy
-ragged red fibers
1742n/aLax et al, 2012a;

[view data]

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
Allele 1:Allele 2:
Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
Match: Inclusive Exact
:.: Privacy Statement :.: Disclaimer :.: Contact Information :.: