Table 1.
Biochemical and Molecular Features with Mutations in Dysferlin Deficient (LGMD2B/MM) and FKRP (LGMD2I) Patients
| PN | Sex | Age at biopsy (yr) | Dysferlin deficiency | Nucleotide change | Outcome of mutation | Novel mutation | Microarray |
|---|---|---|---|---|---|---|---|
| LGMD2B/Miyoshi Subjects | |||||||
| D1 | F | 19 | Complete | c.610C>T | p.Arg203X | No | Yes |
| c.4192_4193insC | p.Cys1398SerfsX11 | Yes | |||||
| D2 | F | NA | Complete | c.3113G>A | p.Arg1038Gln | No | Yes |
| c.1749_1750insT | p.Glu584X | Yes | |||||
| D3 | F | 31 | Complete | c.2779delG | p.Ala927LeufsX21 | Yes | Yes |
| c.4253G>A | p.Gly1418Asp | Yes | |||||
| D4 | M | 27 | Complete | c.3992G>T | p.Arg1331Leu | No | Yes |
| c.3972C>T | ESE | ||||||
| D5 | F | 42 | Complete | c.2902A>T | p.Met968Leu | Yes | Yes |
| c.3181delC | p.Gln1061ArgfsX59 | Yes | |||||
| D6 | F | 41 | Complete | c.539dupC | p.Ala181GlyfsX29 | Yes | Yes |
| c.1402C>T | p.Arg468Cys | Yes | |||||
| D7 | M | 41 | Complete | c.2779delG | p.Ala927LeufsX21 | Yes | Yes |
| c.857T>A | p.Val286Glu | Yes | |||||
| D8 | M | 20 | Partial | c.6124C>T | pArg2042Cys | No | Yes |
| ND | |||||||
| D9 | F | 12 | Complete | c.1178_1180+dup | splice Mutation | Yes | Yes |
| ND | |||||||
| D10 | M | 16 | Complete | c.1834C>T | p.Gln612X | No | Yes |
| 180 bp intronic deletion | |||||||
| D11 | M | 16 | Partial | c.5194G>C | p.Glu1732Gln | Yes | No |
| c.3181delC | p.Gln1061ArgfsX59 | Yes | No | ||||
| D12 | F | 34 | Partial | c.2997G>T | p.Trp999Cys | No | No |
| ND | |||||||
| D13 | M | 54 | Partial | c.5430–2A>G | splice Mutation | Yes | No |
| ND | |||||||
| D14 | M | 43 | Complete | c.4943A>G | p.Tyr1648Cys | Yes | No |
| c.4943A>G | p.Tyr1648Cys | Yes | No | ||||
| D15 | F | 18 | Complete | c.3113G>A | p.Arg1038Gln | No | No |
| ND | |||||||
| D16 | M | 21 | Partial | c.6124C>T | pArg2042Cys | No | No |
| ND | |||||||
| D17 | F | 26 | Complete | c.2643 + 1G>A | splice Mutation | No | No |
| c.4167 + 1G>C | splice Mutation | No | No | ||||
| D18 | M | 37 | Complete | c.2641A>C | p.Thr881Pro | No | No |
| ND | |||||||
| D19 | M | 22 | Complete | c.5835_5838del | p.Gln1946TrpfsX18 | No | No |
| c.5835_5838del | p.Gln1946TrpfsX18 | No | No | ||||
| LGMD2I/FKRP Subjects | |||||||
| F1 | F | 25 | Normal | c.826C>A | p.Leu276Ile | No | Yes |
| c.586G>C | p.Gly196Arg | No | |||||
| F2 | F | 16 | Normal | c.826C>A | p.Leu276Ile | No | Yes |
| c.826C>A | p.Leu276Ile | No | |||||
| F3 | M | 12 | Normal | c.826C>A | p.Leu276Ile | No | Yes |
| ND | |||||||
| F4 | M | 40 | Normal | c.427C>A | p.Arg143Ser | No | Yes |
| ND | |||||||
| F5 | F | 22 | Normal | c.427C>A | p.Arg143Ser | No | Yes |
| ND | |||||||
| F6 | M | 10 | Normal | c.427C>A | p.Arg143Ser | No | Yes |
| c.427C>A | p.Arg143Ser | No | |||||
| F7 | M | 6 | Normal | c.826C>A | p.Leu276Ile | No | Yes |
| c.826C>A | p.Leu276Ile | No | |||||
| F8 | F | 31 | Normal | c.826C>A | p.Leu276Ile | No | Yes |
| c.826C>A | p.Leu276Ile | No | |||||
| F9 | M | NA | Normal | c.826C>A | p.Leu276Ile | No | Yes |
NA, Not available, ND, Not detected, PN, Patient Number.