1
|
f
|
20
|
CPEO
|
ptosis, external ophthalmoplegia, facial weakness, slight general weakness
|
219
|
normal
|
mtDNA deletion 4977 bp
|
> 95 %
|
COX−, ragged blue fibers
|
2
|
m
|
33
|
CPEO
|
ptosis, external ophthalmoplegia, general weakness, exercise intolerance
|
401
|
normal
|
mtDNA deletion 4405 bp
|
90 %
|
unremarkable
|
3
|
f
|
62
|
MM
|
mild proximal lower extremity weakness
|
normal
|
normal
|
mtDNA deletion 5–13 kbp
|
49–71 %
|
COX−, ragged blue fibers
|
4
|
f
|
12
|
MM
|
exercise induced myalgia
|
206
|
normal
|
mtDNA deletion 10–13 kbp
|
35 %
|
COX−, SDH+, ragged red fibers
|
5
|
f
|
20
|
MM
|
exercise induced myalgia
|
normal
|
normal
|
mtDNA deletion 6–10 kbp
|
62 %
|
ragged red fibers
|
6
|
f
|
39
|
MM
|
exercise induced myalgia
|
normal
|
5.3
|
mtDNA deletion 8–12 kbp
|
12–36 %
|
unremarkable
|