A II-6
|
Biceps
|
48
|
Increased fiber size variation, nuclei internalization, type 2 fiber predominance
|
c.4850_4852delAGA
|
p.K1617del [5, 8]
|
34
|
A III-1
|
N.A
|
c.4850_4852delAGA
|
p.K1617del [5, 8]
|
34
|
B II-2
|
Biceps
|
45
|
Increased fiber size variation, type 2 fiber predominance
|
c.4985G > C
|
p.R1662P [15]
|
35
|
B III-1
|
N.A
|
c.4985G > C
|
p.R1662P [15]
|
35
|
C III-1
|
Tibialis anterior
|
20
|
Increased fiber size variation, nuclei internalization, type 2 fiber predominance, fiber type grouping, abnormal mitochondrial
|
c.4626_4628delAGC
|
p.A1543del
|
33
|
D II-2
|
Biceps
|
29
|
Multi-core, increased fiber size variation, small type 1 fibers
|
c.4522_4524delGAG
|
p.E1508del [16]
|
33
|