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1 patient data entry in database for mutations R1096C and G848S.

allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
Developmental delay, hypotonia, dementia/encephalopathy, exercise intolerance, muscle weakness, easy fatigability, ptosis, GI reflux, delayed gastric emptying, cyclic vomiting, hepatic failure, elevated transaminases, lactic acidosis, short statue, FTT. 53% mtDNA copy number in blood.
-lactic acidosis
-muscle weakness
-exercise intolerance
-liver failure
-failure to thrive
-developmental delay
-GI reflux
-cyclic vomiting
-delayed gastric emptying
n/a2n/aTang et al, 2011;

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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.

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Mutations Entry IDs Clusters Reference Residue range
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Use "PNF" for non-missense mutations.
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