Pt N. | BMD vs DMD | Mutation | Effect of mutation | Exon/intron | Stop codon | Reference | Age of onset/diagnosis(ys) | Symptoms at onset | CK levels (UI/L) | Age CK | Loss of ambulation (age) | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
I | BMD | Insertion | c.10453insC | p.Leu3485ProfsX6 | 74 | Â | [33] | 7 | HyperCKemia | 12922 | 7 | No (9) |
II | BMD | Nonsense | c.9G>A | p.Trp3X | 1 | TGA | [10] | 3 | HyperCKemia | 3300 | 3 | No (7) |
III | BMD | Nonsense | c.10783C>T | p.Gln3595X | 75 | TAG | [35] | nd | nd | nd | nd | Yes (22) |
IV | BMD | Missense | c.352T>A | p.Trp118Arg | 5 | Â | Novel | 45 | Motor impairment | nd | nd | No (49) |
V | BMD | Splicing | c.1705-8T>C | cDNA analysis NOT done | IVS14 | Â | Novel | 2 | hyperCKemia | 1604 | 2 | No (5) |
VI | BMD | Splicing | c.6118-3C>A | cDNA analysis NOT done | IVS42 | Â | Novel | 49 | Motor impairment | 1400 | 46 | No (68) |
VII | DMD | Insertion | c.151insC | p.Leu51ProfsX37 | 3 | Â | Novel | nd | nd | nd | nd | nd |
VIII | DMD | Duplication | c.3009dupTG | p.Lys1004X | 23 | Â | Novel | nd | nd | nd | nd | nd |
IX | DMD | Duplication | c.5773_5794dup | p.Gln1932ArgfsX6 | 41 | Â | Novel | 1 | HyperCKemia | 2956 | 17 | Yes (12) |
X.1 | DMD | Insertion | c.7548insGGCAACA | p.Met2517GlyfsX49 | 52 | Â | Novel | nd | nd | nd | nd | nd |
X.2 | DMD | Insertion | c.7548insGGCAACA | p.Met2517GlyfsX49 | 52 | Â | Novel | nd | nd | nd | nd | nd |
XI | DMD | Deletion | c.6353delA | p.Gln2118ArgfsX3 | 44 | Â | Novel | 2 | HyperCKemia | 16159 | 2 | No (13) |
XII.1 | DMD | Deletion | c.6986delA | p.Lys2329SerfsX8 | 48 | Â | [37] | 1 | HyperCKemia | 11493 | 1 | No (1) |
XII.2 | DMD | Deletion | c.6986delA | p.Lys2329SerfsX8 | 48 | Â | [37] | 3 | Motor impairment | 32359 | 3 | No (4) |
XIII | DMD | Deletion | c.9204_9207delCAAA | p.Asn3068LysfsX19 | 62 | Â | Leiden database | 4 | HyperCKemia | 7671 | 6 | Yes (8) |
XIV | DMD | Deletion | c.10386delT | p.Asn3462LysfsX3 | 73 | Â | Novel | nd | nd | 4760 | 11 | Yes (12) |
XV.1 | DMD | Del/ins | c.1603delGTAinsCT | p.Val535LeufsX47 | 14 | Â | Novel | nd | nd | 12000 | 9 | Yes (13) |
XV.2 | DMD | Del/ins | c.1603delGTAinsCT | p.Val535LeufsX47 | 14 | Â | Novel | nd | nd | 2061 | 13 | Yes (12) |
XV.3 | DMD | Del/ins | c.1603delGTAinsCT | p.Val535LeufsX47 | 14 | Â | Novel | nd | nd | 5357 | 9 | Yes (10) |
XVI | DMD | Nonsense | c.568C>T | p.Gln190X | 7 | TAG | [10] | 3 | Motor impairment | 12800 | 6 | No (6) |
XVII | DMD | Nonsense | c.2956C>T | p.Gln986X | 23 | TAA | [35] | 3 | Motor impairment | 10430 | 3 | Yes (11) |
XVIII | DMD | Nonsense | c.3580C>T | p.Gln1194X | 26 | TAG | [10] | 3 | HyperCKemia | 13580 | 3 | No (7) |
XIX | DMD | Nonsense | c.4117C>T | p.Gln1373X | 30 | TAG | Leiden database | 2 | HyperCKemia | 7246 | 5 | No (6) |
XX | DMD | Nonsense | c.4996C>T | p.Arg1666X | 35 | TGA | 38] | 1 | Delayed motor milestones | 8000 | 1 | No (7) |
XXI | DMD | Nonsense | c.5209C>T | p.Arg1737X | 37 | TAA | Novel | 2 | HyperCKemia | nd | nd | No (2) |
XXII | DMD | Nonsense | c.5530C>T | p.Arg1844X | 39 | TGA | [38] | 3 | Motor impairment | 19000 | 5 | No (6) |
XXIII.1 | DMD | Nonsense | c.5563C>T | p.Gln1855X | 39 | TAG | [35] | 3 | HyperCKemia | 19452 | 4 | No (7) |
XXIII.2 | DMD | Nonsense | c.5563C>T | p.Gln1855X | 39 | TAG | [35] | 2 | No symptoms | nd | Â | No (5) |
XXIV | DMD | Nonsense | c.6277A>T | p.Lys2093X | 43 | TAG | Novel | 1 | Delayed motor milestones | 17000 | 1 | No (5) |
XXV.1 | DMD | Nonsense | c.6943G>T | p.Glu2315X | 48 | TAA | [39] | 3 | Motor impairment | 1918 | 12 | Yes (8) |
XXV.2 | DMD | Nonsense | c.6943G>T | p.Glu2315X | 48 | TAA | [39] | 3 | Motor impairment | 7583 | 9 | No (8) |
XXVI | DMD | Nonsense | c.8038C>T | p.Arg2680X | 55 | TGA | [40] | 4 | Delayed speech | 3211 | 11 | Yes (9) |
XXVII | DMD | Nonsense | c.8608C>T | p.Arg2870X | 58 | TGA | Leiden database | 1 | Delayed motor milestones | 12954 | 9 | No (10) |
XXVIII | DMD | Nonsense | c.8944C>T | p.Arg2982X | 60 | TGA | [38] | 4 | Delayed motor milestones | 8617 | 7 | No (8) |
XXIX | DMD | Nonsense | c.9100C>T | p.Arg3034X | 61 | TGA | [10] | 6 | Delayed motor milestones | 15000 | 1 | No (8) |
XXX | DMD | Nonsense | c.10108C>T | p.Arg3370X | 70 | TGA | [40] | 4 | Delayed motor milestones | 8891 | 1 | No (9) |
XXXI | DMD | Nonsense | c.10108 C>T | p.Arg3370X | 70 | TGA | [40] | 4 | Delayed motor milestones | 2312 | 10 | Yes (10) |
XXXII | DMD | Nonsense | c.10141C>T | p.Arg3381X | 70 | TGA | [40] | nd | nd | nd | nd | No (4) |
XXXIII | DMD | Nonsense | c.10219G>T | p.Glu3407X | 70 | TAA | Novel | 4 | HyperCKemia | 9200 | 4 | No (11) |
XXXIV | DMD | Nonsense | c.10651C>T | p.Gln3551X | 75 | TAG | Novel | 1 | Delayed motor milestones | 13672 | 2 | nd |
XXXV | DMD | Splicing | c.9560A>G | p.Asp3187Gly | 65 | Â | [39] | 4 | HyperCKemia | 17634 | 5 | No (6) |
XXXVI | DMD | Splicing | c.358-2A>T | cDNA analysis NOT done | IVS5 | Â | [10] | 4 | nd | 3904 | 10 | Yes (8) |
XXXVII | DMD | Splicing | c.2949+1G>T | cDNA analysis NOT done | IVS22 | Â | [12] | nd | Delayed motor milestones | 11834 | 1 | nd |
XXXVIII | DMD | Splicing | c.6118-1G>A | cDNA analysis NOT done | IVS42 | Â | Leiden database | nd | nd | nd | Â | nd |
XXXIX | DMD | Splicing | c.8668+3A>T | cDNA analysis NOT done | IVS58 | Â | Novel | 3 | HyperCKemia | 11815 | 3 | Yes (10) |
XL | DMD | Splicing | c.9563_9564ins53 | p.Thr3188=fsX7 | IVS65 | Â | Novel | 4 | HyperCKemia | 16000 | 4 | No (6) |
XLI | DMD | Splicing | c.10086+1G>A | cDNA analysis NOT done | IVS69 | Â | [36] | 1 | Delayed motor milestones | 7365 | 1 | Yes (9) |