Table 2.

Single Large-Scale Mitochondrial DNA Deletion Syndromes: Frequency of Phenotypes

PhenotypeCohort of 34 Children 1Cohort of 228 Adults & Children 2
KSS 29%7%
KSS spectrum 0%25%
PS 32%3%
CPEO 9%57%-64% 3
CPEO-plus 21%
No phenotype assigned 9%

CPEO = chronic progressive external ophthalmoplegia; KSS = Kearns-Sayre syndrome; PS = Pearson syndrome

1.
2.
3.

Using classic criteria for CPEO (ptosis, ophthalmoplegia, dysphagia, proximal limb weakness, exercise intolerance), 57% met criteria for CPEO.

From: Single Large-Scale Mitochondrial DNA Deletion Syndromes

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