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7 patient data entries collated from reference Agostino et al, 2003.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
218R1047Q3
PEO, bilateral ptosis, severe limita- tion of ocular motility, and a mosaic distribution of ragged-red and cytochrome c oxidase–negative fibers in the muscle biopsy. All patients had multiple deletions of muscle mtDNA.
-ragged red fibers
-ptosis
-PEO
adult
n/a35n/a
227A467T2
S1104C1
PEO, bilateral ptosis, severe limita- tion of ocular motility, and a mosaic distribution of ragged-red and cytochrome c oxidase–negative fibers in the muscle biopsy. All patients had multiple deletions of muscle mtDNA.
-ragged red fibers
-ptosis
-PEO
adult
n/a48n/a
263R227W4
T251I
P587L2
PEO, bilateral ptosis, severe limita- tion of ocular motility, and a mosaic distribution of ragged-red and cytochrome c oxidase–negative fibers in the muscle biopsy. All patients had multiple deletions of muscle mtDNA.
-ragged red fibers
-ptosis
-PEO
adult
n/a48n/a
619Indel:
1270-71CTdel
G431V1
PEO, bilateral ptosis, severe limita- tion of ocular motility, and a mosaic distribution of ragged-red and cytochrome c oxidase–negative fibers in the muscle biopsy. All patients had multiple deletions of muscle mtDNA.
-ragged red fibers
-ptosis
-PEO
adult
n/a51n/a
620R1096C3
PEO, bilateral ptosis, severe limitation of ocular motility, and a mosaic distribution of ragged-red and cytochrome c oxidase negative fibers in the muscle biopsy. All patients had multiple deletions of muscle mtDNA.
-ragged red fibers
-cox-negative
-ptosis
-PEO
adult
n/a23n/a
621S1104C1
PEO, bilateral ptosis, severe limitation of ocular motility, and a mosaic distribution of ragged-red and cytochrome c oxidase–negative fibers in the muscle biopsy. All patients had multiple deletions of muscle mtDNA.
-ragged red fibers
-ptosis
-PEO
adult
n/a42n/a
622W312R3
PEO, bilateral ptosis, severe limitation of ocular motility, and a mosaic distribution of ragged-red and cytochrome c oxidase–negative fibers in the muscle biopsy. All patients had multiple deletions of muscle mtDNA.
-ragged red fibers
-ptosis
-PEO
adult
n/a39n/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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