Table 2. Summary of clinical and pathological findings of BMD patients without RVs (DMD deletion exons 45–47 and 45–48).
Patient No. | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 | 21 | 22 | 23 | 24 | 25 | 26 | 27 | 28 | 29 | 30 | 31 |
DMD Deletion | exons 45–47 | exons 45–48 | |||||||||||||||||
Clinical findings | |||||||||||||||||||
age at onset(years) | 22 | 30 | 45 | 14 | 4 | unknown | 38 | 14 | 5 | 4 | 5 | 13 | 15 | 16 | 2 | 45 | 7 | 33 | 39 |
symptom at onset | weakness | weakness | weakness | weakness | atrophy | unknown | weakness | high CK | pain | pain | weakness | pain | weakness | weakness | cramp | weakness | weakness | weakness | weakness |
age at biopsy(years) | 24 | 46 | 60 | 48 | 19 | 23 | 48 | 14 | 6 | 14 | 10 | 53 | 58 | 64 | 16 | 48 | 10 | 56 | 40 |
serum CK activity(IU/L) | 994 | 1487 | 942 | 569 | 1193 | unknown | 321 | 2705 | 15540 | 3044 | 11174 | 549 | 513 | 245 | 2702 | 758 | 2945 | 615 | 600 |
Pathological findings | |||||||||||||||||||
biopsied muscle | QF | deltoid | BB | BB | QF | unknown | BB | GC | BB | BB | BB | BB, QF | BB | GC | QF | BB | BB | TA | GC |
fiber typepopulation | |||||||||||||||||||
type 1 (%) | 10 | 66 | 36 | 42 | 16 | 54 | 70 | 28 | 46 | 41 | 38 | 50 | 67 | 47 | 27 | 40 | 48 | 80 | 54 |
type 2A (%) | 44 | 28 | 47 | 49 | 67 | 23 | 22 | 59 | 32 | 24 | 55 | 26 | 28 | 31 | 51 | 38 | 45 | 20 | 30 |
type 2B (5) | 46 | 3 | 16 | 10 | 9 | 22 | 4 | 11 | 20 | 33 | 4 | 21 | 6 | 13 | 12 | 17 | 4 | 0 | 16 |
type 2C (%) | 0 | 3 | 1 | 0 | 0 | 2 | 4 | 2 | 2 | 2 | 3 | 3 | 0 | 8 | 10 | 5 | 3 | 1 | 1 |
small atrophicfibers* | 73 | 32 | 0 | 278 | 56 | 62 | 115 | 3 | 11 | 16 | 7 | 115 | 0 | 78 | 150 | 51 | 24 | 6 | 80 |
necrotic fibers* | 0 | 0 | 0 | 0 | 0 | 8 | 1 | 3 | 2 | 3 | 1 | 0 | 0 | 2 | 3 | 0 | 5 | 0 | 0 |
regeneratingfibers* | 4 | 22 | 0 | 0 | 0 | 0 | 3 | 13 | 13 | 1 | 15 | 2 | 0 | 0 | 3 | 2 | 7 | 3 | 5 |
QF = quadriceps femoris; BB = biceps brachii; GC = gastrocnemius; TA = tibialis anterior; *per 1,000 fibers