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. 2012 Dec 14;7(12):e52002. doi: 10.1371/journal.pone.0052002

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