Diagnosis and mutational class | Method of mutation deletion | Total (%) | |||||||
---|---|---|---|---|---|---|---|---|---|
Exon mPCR | qfPCR/MLPA | DNA sequence | Mutn negative | ||||||
BMD, Becker muscular dystrophy; DMD, Duchenne muscular dystrophy; F, female; M, male; MLPA, multiplex ligation-dependent probe amplification; mPCR, multiplex PCR; qfPCR, quantitative fluorescent PCR. | |||||||||
Duchenne | M | F | M | F | M | F | M | F | |
Exon deletions | 162 | 29 | 37 | 228 (58) | |||||
Exon duplications | 31 | 24 | 55 (14) | ||||||
DNA sequence mutations | 1 | 3 | 71 | 21 | 96 (24) | ||||
Mutation negative | 10 | 5 | 15 (4) | ||||||
DMD mutations | 379 (96%) | 394 | |||||||
Becker | |||||||||
Exon deletions | 39 | 6 | 6 | 51 (59) | |||||
Exon duplications | 8 | 8 (9) | |||||||
DNA sequence mutations | 11 | 1 | 12 (14) | ||||||
Mutation negative | 16 | 16 (18) | |||||||
BMD mutations | 71 (82%) | 87 |