No | Muscle biopsied | Age at biopsy | Pathological change | Nucleotide change | Amino acid change | Exon affected |
---|---|---|---|---|---|---|
A II-6 | Biceps | 48 | Increased fiber size variation, nuclei internalization, type 2 fiber predominance | c.4850_4852delAGA | 34 | |
A III-1 | N.A | c.4850_4852delAGA | 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 |