Home Query References Browse Contact

1 patient data entry in database for mutations A467T and L428P.

allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
Alpers, cerebellar ataxia at age 2, seizures at age 3, RC deficiency in liver, hepatocellular insufficiency after valproate treatment at age 3.6, death at age 3.8. 8% mtDNA copy number in liver.
-cerebellar ataxia
-movement disorder (ataxia)
-liver dysfunction
-Alpers syndrome
-developmental delay
2n/a3.8Sarzi et al, 2007;

[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 :.: