Table 1 Characteristics of muscle biopsy samples used in this study.
Case and phenotype | Genetic defect | Age at time of biopsy | Sex | Nuclear gene mutation or mtDNA deletion breakpoints | AA change | Heteroplasmy estimation of muscle biopsy DNA |
|---|---|---|---|---|---|---|
P1 (DOA plus) | OPA1 heterozygous missense | 66 | M | OPA1 c.1462G>A | p.G488R | 56% (Southern blot) |
P2(DOA plus) | OPA1 heterozygous missense | 42 | M | OPA1 c.1316G>T | p.G439V | 37% (Southern blot) |
P3(SANDO) | POLG heterozygous missense and insertion | 53 | M | POLG1 c.934T>C c.3629insA | p.W312R and p.Y1210X | 76% (Southern blot) |
P4 (SANDO, Parkinsonism) | POLG homozygous missense | 57 | F | POLG1 c.1943C>G | p.P648R | 64% (Southern blot) |
P5(CPEO) | mtDNA single deletiona | 49 | M | mtDNA nt.8469-nt.13447 | NA | NA |
P6 (CPEO) | mtDNA single deletiona | 18 | F | mtDNA nt.8469-nt.13447 | NA | 74% (Southern blot) |
P7 (CPEO) | mtDNA single deletion | 50 | M | mtDNA nt.9431-nt.15423 | NA | NA |
C1 | Control 1 | 37 | F | NA | NA | NA |
C2 | Control 2 | 20 | F | NA | NA | NA |
C3 | Control 3 | 41 | F | NA | NA | NA |
