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. 2018 Feb 19;2(4):361–373. doi: 10.1210/js.2017-00434

Table 1.

Demographics and Characteristics of Our Cohort

Frequency (n = 404) Percentage (95% CI)
Age at mitochondrial disease diagnosis
 <18 y 243 60.1
 18–44 y 95 23.5
 45–64 y 27 6.7
 ≥65 y 2 0.5
 Unknown 37 9.2
Age at enrollment in the NAMDC Patient Registry
 <18 y 187 46.3
 18–44 y 128 31.7
 45–64 y 72 17.8
 ≥65 y 17 4.2
Sex
 Female 230 56.9
 Male 174 43.1
Race/Ethnicity
 White 347 85.9
 Asian 16 4
 Hispanic or Latino 16 4
 Black/African American 8 2
 Multiracial 7 1.7
 American Indian/Alaska Native 3 0.7
 Native Hawaiian/Pacific Islander 1 0.2
 Other/Unknown 6 1.5
Type of associated pathogenic molecular genetic mutation
 Mutation of nuclear DNA 158 39.1 (34.3–44.1)
 Mitochondrial DNA defects 228 0.4 (51.4–61.3)
 Mutation(s) in both 18 4.5(2.7–7)
Presence of a clinical mitochondrial syndrome diagnosis
 Diagnosis identified 389 96.3
 Undetermined/unknown 15 3.7