Table 1 Summary of patients with LGMD
Subtype (gene) | Patient No. | Age (Y)/Gender | Onset age (Y) | Initial weakness | calf hyper−/atrophy | Loss of ambu-lation (Y) | Cardiac/pulmonary involvement | CK level (IU/L) (age at first visit) | Muscle pathology (category No) | Mutation (Allele 1) | Mutation (Allele 2) |
|---|---|---|---|---|---|---|---|---|---|---|---|
1B (LMNA) | P1 | 5/M^ | Uncertain% | P | No/No | Not yet | No/No | 1632 (2) | 7 | c.1357C > T (p.Arg453Trp) LP | |
P2 | 7/F^ | Uncertain% | P | No/No | Not yet | No/No | 2718 (5) | ND | c.1357C > T (p.Arg453Trp) LP | ||
P3 | 30/F^ | Uncertain | P | No/No | Not yet | unknown | ND | ND | c.1357C > T (p.Arg453Trp) LP | ||
1E (DES) | P4 | 59/F^ | 50 | P + D | No/No | Not yet | No/No | ND | ND | c.1097_1099delACA (p.Asn366del) P | |
P5 | 45/F^ | 35 | P + D | No/No | Not yet | No/No | 474 (35) | ND | c.1097_1099delACA (p.Asn366del) P | ||
P6 | 42/M^ | 28 | P - > D | No/No | Yes (40) | Yes/Yes | 1458 (32) | 5 | c.1097_1099delACA (p.Asn366del) P | ||
P7 | 55/F# | 43 | P + D | No/No | Not yet | No/Yes | 93 (51) | 5 | c.1097_1099delACA (p.Asn366del) P | ||
P8 | 28/F# | 28 | P | No/No | Not yet | No/No | 591 (26) | ND | c.1097_1099delACA (p.Asn366del) P | ||
2A (CAPN3) | P9 | 41/F | 15 | P | No/Yes | Yes (36) | No/Yes | 914 (33) | 6 | c.2047_2050del4 (p.Lys683fs) LP | c.2047_2050del4 (p.Lys683fs) LP |
P10 | 42/F^ | 13 | P | No/No | Yes (35) | No/No | 432 (35) | 6 | c.1621C > T (p.Arg541Trp) P | c.2305C > T (p.Arg769Trp) LP | |
P11 | 40/F^ | 14 | P | Unknown | Yes (29) | Unknown | ND | ND | c.1621C > T (p.Arg541Trp) P | c.2305C > T (p.Arg769Trp) LP | |
P12 | 24/M | 10 | P | No/Yes | Yes (23) | No/Yes | 2004 (20) | 6 | c.1837A > T (p.Lys613*) VUS | c.2050 + 1G > A P | |
P13 | 53/F | 30 | P | No/Yes | Yes (49) | No/No | 361 (49) | ND | c.1016C > G (p.Thr339Arg) VUS | c.1817C > T (p.Ser606Leu) LP | |
2B (DYSF) | P14 | 22/M | 14 | P | No/No | Not yet | No/No | 14,509 (13) | 2 | c.2311C > T (p.Gln771*) P | c.2870_2874delAGACC (p.Gln957Profs*12) P |
P15 | 41/F | 20 | P> > D | No/Yes | Yes (36) | No/No | 5025 (34) | 2 | exon 5 del P | exon 5 del P | |
P16 | 52/F | 15 | P> > D | No/Yes | Yes (48) | No/Yes | 4250 (26) | 2 | no mutation identified | no mutation identified | |
P17 | 41/M | 15 | P + D | No/Yes | Yes (uncertain) | No/No | 16,020 (21) | 2 | c.2870_2874delAGACC (p.Gln957Profs*12) P | c.5302C > T (p.Arg1768Trp) P | |
P18 | 25/M | 13 | P + D | No/Yes | Not yet | No/No | 11,972 (13) | 2 | c.937 + 1G > A P | c.1721 T > C (p.Leu574Pro) LP | |
P19 | 54/M | 18 | P | unknown | Yes (42) | No/No | 707 (48) | ND | c.937 + 1G > A P | c.937 + 1G > A P | |
P20 | 18/F | 16 | P | No/No | Not yet | No/No | 5403 (17) | 2 | c.965 T > C (p.Leu322Pro) LP | c.2311C > T (p.Gln771*) P | |
2D (SGCA) | P21 | 23/M | 3 | P | Yes/No | Yes (10) | Yes/Yes | 39,072 | 3 | c.101G > T (p.Arg34Leu) P | c.101G > T (p.Arg34Leu) P |
P22 | 25/F | 5 | P | Yes/No | Yes (15) | Yes/Yes | 21,332 | 3 | c.101G > T (p.Arg34Leu) P | c.101G > T (p.Arg34Leu) P | |
P23 | 49*/M | < 5 | P | unknown | Yes (28) | Unknown/Yes | unknown | ND | c.101G > T (p.Arg34Leu) P | c.101G > T (p.Arg34Leu) P | |
P24 | 14/M | 6 | P | Yes/No | Not yet | No/No | 11,042 | 3 | c.101G > T (p.Arg34Leu) P | c.101G > T (p.Arg34Leu) P | |
P25 | 6/M | Not yet | P | Yes/No | Not yet | No/No | 20,400 | ND | c.101G > T (p.Arg34Leu) P | c.101G > T (p.Arg34Leu) P | |
P26 | 3/M | Not yet | P | Yes/No | Not yet | No/No | 9800 | 3 | c.101G > T (p.Arg34Leu) P | c.101G > T (p.Arg34Leu) P | |
2G (TCAP) | P27 | 61/F | 12 | P | No/No | Yes (42) | No/Yes | 474 (55) | 7 | c.26_33dup (p.Glu12Argfs*20) P | c.26_33dup (p.Glu12Argfs*20) P |
P28 | 59/M | 15 | P | Unknown | Yes (33) | Yes/Yes | ND | ND | c.26_33dup (p.Glu12Argfs*20) P | c.26_33dup (p.Glu12Argfs*20) P | |
P29 | 35/M | 21 | P | Yes/No | Yes (33) | No/No | 1441 (24) | 7 | c.26_33dup (p.Glu12Argfs*20) P | c.26_33dup (p.Glu12Argfs*20) P | |
P30 | 36/F | 30 | P + D | Yes/No | Not yet | No/No | 1403 (33) | 7 | c.26_33dup (p.Glu12Argfs*20) P | c.26_33dup (p.Glu12Argfs*20) P | |
2I (FKRP) | P31 | 42/F | 2 | P | Yes/No | Yes (38) | Yes/Yes | 1–1.5 K (30) | 4 | c.263A > T (p.Tyr88Phe) LP | c.263A > T (p.Tyr88Phe) LP |
P32 | 23/M | 5 | P | Yes/No | Yes (20) | Yes/Yes | > 10 K (12) | 4 | c.545A > G (p.Tyr182Cys) P | c.948delC (p.Cys317Alafs*111) P | |
P33 | 47*/M^ | 10 | P | Yes/No | Yes (29) | Yes/Yes | 1.5-2 K (31) | 4 | c.545A > G (p.Tyr182Cys) P | c.948delC (p.Cys317Alafs*111) P | |
P34 | 38/M^ | 17 | P | Yes/No | Yes (33) | Yes/Yes | 1.5-2 K (30) | ND | c.545A > G (p.Tyr182Cys) P | c.948delC (p.Cys317Alafs*111) P | |
P35 | 18/M | 2 | P | Yes/No | Yes (15) | No/No | 6-9 K (10) | 4 | c.823C > T (p.Arg275Cys) P | c.948delC (p.Cys317Alafs*111) P | |
P36 | 31/F | 2 | P | Yes/No | Yes (12) | Yes/Yes | > 10 K (3) | 4 | c.823C > T (p.Arg275Cys) P | c.948delC (p.Cys317Alafs*111) P | |
P37 | 42/F# | 10 | P | Yes/No | Yes (38) | Yes/Yes | 3 K (38) | 4 | c.545A > G (p.Tyr182Cys) P | c.151G > T (p.Val51Phe) VUS | |
P38 | 25*/M# | 12 | P | Yes/No | No | Yes/Yes | unknown | ND | c.545A > G (p.Tyr182Cys) P | c.151G > T (p.Val51Phe) VUS | |
2 N (POMT2) | P39 | M/41 |  | P | Yes/No | Yes (35) | No/Yes | 1862 (33) | 4 | c.1061A > G (p.Tyr354Cys) VUS | c.1061A > G (p.Tyr354Cys) VUS |
2Q (PLEC) | P40 | M/29 | 3 | P | No/No | Not yet | No/Yes | 513 (6) | 7 | c.12731G > A (p.Arg4244His) VUS | c.7928A > G (p.Glu2643Gly) VUS |