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1 patient data entry in database for mutations R807P and D1184N.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
180D1184N1
R807P3
Growth retardation, hypotonia, RC deficiency in muscle, hepatic failure. Onset 5 months of age, death at 11 months of age. 3% mtDNA copy number in muscle, 25 mtDNA copy number in liver.
-liver failure
-hypotonic
-growth retardation
-retardation
infantile
0.5n/a1Sarzi et al, 2007;

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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
Mutations:
Allele 1:Allele 2:
Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
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