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1 patient data entry collated from reference Van Goethem et al, 2003c.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
24N864S1
T251I
P587L2
MNGIE-like, presented with GI symptoms, ptosis, neuropathy, muscle weakness.
-muscle weakness
-ptosis
juvenile
n/a15n/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.

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