Table 1.
Dysferlinopathy patient information.
| Patient number | Gender | Age at onset (if known) | Age at biopsy | Mutation | CK | Phenotype |
|---|---|---|---|---|---|---|
| DYSF 1 | F | 10 (distal) | 15.7 | c.855+1delG; c.3031G>C, p.(Gly1011Arg) | 3012 | MM |
| DYSF 2 | F | 26 | 20.5 | c.2434dup p.(His812Profs*53); c.1745G>T p.(Arg582Leu) | 7586 | LGMD2B |
| DYSF 3 | F | 26 | 21.9 | Hom. c.2163-1G>T | 13,000 | LGMD2B |
| DYSF 4 | M | Birth | 24.7 | Hom. c.1480+18T>C; c.4999G>A, p.(Glu1667Lys) | 400–700 | LGMD2B |
| DYSF 5 | M | 9 | 28.9 | exon 5–10 deletion; c.757C>T, p.(Arg253Trp) | 5000 | LGMD2B |
| DYSF 6 | M | Late teens (distal) | 30.4 | Hom. c.3059dupC, p.(Glu1021Glyfs*10) | 20,000 | MM |
| DYSF 7 | F | N/K | 47.1 | c. 5509G>A, p.(Asp1837Asn); c.6124C>T, p.(Arg2042Cys) | 5110 | LGMD2B |
| DYSF 8 | M | 13 | 52.5 | c.3512_3513delCT, p.(Ser1171Phefs*3); c.5908C>T, p.(Pro19070Ser) | 6000 | LGMD2B |
Notes: Patients are organised in age order and all mutation nomenclature uses the primary transcript (NM_003494.3). All biopsies were taken from the quadriceps via needle biopsy.
N/K; Not known; M: Male; F: Female; Hom.: homozygous; LGMD2B: Limb girdle muscular dystrophy type 2B; MM: Miyoshi Myopathy.