Table 1.
Clinical information for dysferlinopathic patients
| Patient No. | Sex | DOB | Clinical diagnosis | Gene mutations | IHC |
|---|---|---|---|---|---|
| 1 | M | 1984-4-25 | LGMD2B | c.1033+1G>A (Intron11, het) | N/A |
| 2 | F | 1989-10-27 | LGMD2B | c.1721T>C (p.Leu574Pro, het) c.6241C>T (p.Arg2081Cys, het) |
Dysferlin(-) |
| 3 | M | 1997-2-10 | Miyoshi | c.959A>T (p.Asp320Val, het) c.1721T>C (p.Leu574Pro, het) |
Dysferlin(-) |
| 4 | M | 1974-11-25 | Miyoshi | c.5905T>C(p.Trp1969Arg, het) c.5509G>A(p.Asp1837Asn, het) |
Dysferlin(-) |
| 5 | M | 1979-7-30 | Miyoshi | c.4939G>T(p.Glu1647Ter, het) | Dysferlin(±) |
| 6 | M | 1983-5-19 | LGMD2B | c.3166C>T(p.Arg1056Ter, het); c.1577-2A>C(Intron17, het) |
N/A |
| 7 | M | 1983-9-5 | LGMD2B | c.847A>G(p.Thr283Ala,hom) | N/A |
| 8 | F | 1993-7-4 | LGMD2B | c.1468_1469insA(p.Met490AsnfsX15,hom) | Dysferlin(-) |
| 9 | F | 1983-4-21 | LGMD2B | c.1560delT(p.Pro520fs, het); c.3093G>T(p.Trp1031Cys, het) |
Dysferlin(-) |
| 10 | F | 1981-4-13 | LGMD2B | c.5657dupG(p.Trp1886fs,hom) | N/A |
| 11 | F | 1979-8-11 | Miyoshi | N/A | Dysferlin(-) |
| 12 | F | 1987-1-3 | Miyoshi | c.1523-1G>A(intron17, het) c.5525G>A(p.Gly1842Asp, het) |
Dysferlin(-) |
| 13 | F | 2002-10-1 | LGMD2B | c.4532delA(p.Glu1512SerfsX13, het) c.5626G>T(p.Asp1876Tyr, het) |
N/A |
| 14 | F | 1996-12-16 | LGMD2B | c.3112C>T(p.Arg1038Ter,hom) | Dysferlin(-) |
| 15 | F | 1981-11-22 | LGMD2B | c.1033+1G>A(Intron11, het) c.3575-1G>T(Intron32, het) |
N/A |
| 16 | M | 1990-8-22 | Miyoshi | c.1033+1G>A (Intron11, het) c.3575-1G>T (Intron32, het) |
N/A |
| 17 | M | 2001-4-23 | Miyoshi | c.5830C>T(p.Arg1944Ter, het) c.5346delG(p.Leu1782LeufsX81, het) |
Dysferlin(-) |
| 18 | F | 1989-2-28 | LGMD2B | c.1461C>A(p.Cys487Ter, het) c.3033delG(p.Val1011ValfsX77, het) |
N/A |
| 19 | M | 1988-12-10 | LGMD2B | c.703C>T(p.Arg235Ter,hom) | N/A |
| 20 | F | 1996-3-26 | LGMD2B | c.2049G>A(p.Trp683Ter, het) c.176delT(p.Leu59ArgfsX92, het) |
N/A |
| 21 | M | 1992-2-25 | Miyoshi | c.703C>T(p.Arg235Ter,hom) | N/A |
| 22 | F | 1986-10-1 | Miyoshi | N/A | Dysferlin(-) |
*N/A: not available; DOB: date of birth; IHC: immunohistochemistry; Dysferlin (±) means very faint staining. Miyoshi: miyoshi myopathy; LGMD2B: limb-girdle muscular dystrophy type 2B; Gene mutations: transcript accession numbers NM_001130987; 001130979; 003494.