Table 1 Demographic and genotypic characteristic summary (N = 30) [25]
Variable | n | Mean (SD or range) or percentage |
|---|---|---|
Age (in years) | 30 | 45.3 (17–65) |
Sex | ||
Female | 25 | 83% |
Male | 5 | 17% |
Race (one participant chose all that applied) | ||
White | 30 | 100% |
Asian | 1 | 3% |
Ethnicity | ||
Not Hispanic of Latino | 29 | 97% |
Hispanic of Latino | 1 | 3% |
Weight (kg) | 30 | 65.1 (± 14.2) |
BMI (kg/m2) | 30 | 24.1 (15.8–36.0) |
Baseline 6MWT (m) | 30 | 389.4 (± 23.6) |
Baseline 6MWT (m) < 450 | 22 | 73% |
Baseline 6MWT (m) ≥ 450 | 8 | 27% |
Genotypic characteristics | ||
Mitochondrial DNA (mtDNA) | ||
Disorders involving mtDNA mutations that impair mitochondrial protein synthesis in toto | 19 | 63% |
Mitochondrial deletion syndrome | 11 | 37% |
m.3243A > G | 4 | 13% |
m.8344A > G | 3 | 10% |
Multisystem mitochondrial disorder (MT-TH and tRNA) | 1 | 3% |
Disorders involving mtDNA mutations that affect the subunits of the respiratory chain | 5 | 17% |
Multisystem mitochondrial disorder (MT-COX1) | 1 | 3% |
Mitochondrial Myopathy (MTCYB) | 1 | 3% |
LHON Plus | 1 | 3% |
Multisystem Mitochondrial Disorder (MT-ND3) | 1 | 3% |
Leigh syndrome (NDUFV1) | 1 | 3% |
Nuclear DNA (nDNA) | ||
Disorders involving nDNA mutations causing defects of intergenomic signaling | 3 | 10% |
POLG-related disorder | 3 | 10% |
Disorders involving nDNA mutations causing alterations of the lipid milieu of the inner mitochondrial membrane | 1 | 3% |
MEGDEL | 1 | 3% |
Disorders involving nDNA mutations causing alterations of mitochondrial motility or fission | 2 | 7% |
Multisystem mitochondrial disorder (OPA1) | 2 | 7% |