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Table 1 Summary of patients with LGMD

From: Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy

Subtype (gene)Patient No.Age (Y)/GenderOnset age (Y)Initial weaknesscalf hyper−/atrophyLoss of ambu-lation (Y)Cardiac/pulmonary involvementCK level (IU/L)
(age at first visit)
Muscle pathology (category No)Mutation
(Allele 1)
(Allele 2)
1B (LMNA)P15/M^Uncertain%PNo/NoNot yetNo/No1632 (2)7c.1357C > T (p.Arg453Trp) LP
P27/F^Uncertain%PNo/NoNot yetNo/No2718 (5)NDc.1357C > T (p.Arg453Trp) LP
P330/F^UncertainPNo/NoNot yetunknownNDNDc.1357C > T (p.Arg453Trp) LP
1E (DES)P459/F^50P + DNo/NoNot yetNo/NoNDNDc.1097_1099delACA (p.Asn366del) P
P545/F^35P + DNo/NoNot yetNo/No474 (35)NDc.1097_1099delACA (p.Asn366del) P
P642/M^28P - > DNo/NoYes (40)Yes/Yes1458 (32)5c.1097_1099delACA (p.Asn366del) P
P755/F#43P + DNo/NoNot yetNo/Yes93 (51)5c.1097_1099delACA (p.Asn366del) P
P828/F#28PNo/NoNot yetNo/No591 (26)NDc.1097_1099delACA (p.Asn366del) P
2A (CAPN3)P941/F15PNo/YesYes (36)No/Yes914 (33)6c.2047_2050del4 (p.Lys683fs) LPc.2047_2050del4 (p.Lys683fs) LP
P1042/F^13PNo/NoYes (35)No/No432 (35)6c.1621C > T (p.Arg541Trp) Pc.2305C > T (p.Arg769Trp) LP
P1140/F^14PUnknownYes (29)UnknownNDNDc.1621C > T (p.Arg541Trp) Pc.2305C > T (p.Arg769Trp) LP
P1224/M10PNo/YesYes (23)No/Yes2004 (20)6c.1837A > T (p.Lys613*) VUSc.2050 + 1G > A P
P1353/F30PNo/YesYes (49)No/No361 (49)NDc.1016C > G (p.Thr339Arg) VUSc.1817C > T (p.Ser606Leu) LP
2B (DYSF)P1422/M14PNo/NoNot yetNo/No14,509 (13)2c.2311C > T (p.Gln771*) Pc.2870_2874delAGACC (p.Gln957Profs*12) P
P1541/F20P> > DNo/YesYes (36)No/No5025 (34)2exon 5 del Pexon 5 del P
P1652/F15P> > DNo/YesYes (48)No/Yes4250 (26)2no mutation identifiedno mutation identified
P1741/M15P + DNo/YesYes (uncertain)No/No16,020 (21)2c.2870_2874delAGACC (p.Gln957Profs*12) Pc.5302C > T (p.Arg1768Trp) P
P1825/M13P + DNo/YesNot yetNo/No11,972 (13)2c.937 + 1G > A Pc.1721 T > C (p.Leu574Pro) LP
P1954/M18PunknownYes (42)No/No707 (48)NDc.937 + 1G > A Pc.937 + 1G > A P
P2018/F16PNo/NoNot yetNo/No5403 (17)2c.965 T > C (p.Leu322Pro) LPc.2311C > T (p.Gln771*) P
2D (SGCA)P2123/M3PYes/NoYes (10)Yes/Yes39,0723c.101G > T (p.Arg34Leu) Pc.101G > T (p.Arg34Leu) P
P2225/F5PYes/NoYes (15)Yes/Yes21,3323c.101G > T (p.Arg34Leu) Pc.101G > T (p.Arg34Leu) P
P2349*/M< 5PunknownYes (28)Unknown/YesunknownNDc.101G > T (p.Arg34Leu) Pc.101G > T (p.Arg34Leu) P
P2414/M6PYes/NoNot yetNo/No11,0423c.101G > T (p.Arg34Leu) Pc.101G > T (p.Arg34Leu) P
P256/MNot yetPYes/NoNot yetNo/No20,400NDc.101G > T (p.Arg34Leu) Pc.101G > T (p.Arg34Leu) P
P263/MNot yetPYes/NoNot yetNo/No98003c.101G > T (p.Arg34Leu) Pc.101G > T (p.Arg34Leu) P
2G (TCAP)P2761/F12PNo/NoYes (42)No/Yes474 (55)7c.26_33dup (p.Glu12Argfs*20) Pc.26_33dup (p.Glu12Argfs*20) P
P2859/M15PUnknownYes (33)Yes/YesNDNDc.26_33dup (p.Glu12Argfs*20) Pc.26_33dup (p.Glu12Argfs*20) P
P2935/M21PYes/NoYes (33)No/No1441 (24)7c.26_33dup (p.Glu12Argfs*20) Pc.26_33dup (p.Glu12Argfs*20) P
P3036/F30P + DYes/NoNot yetNo/No1403 (33)7c.26_33dup (p.Glu12Argfs*20) Pc.26_33dup (p.Glu12Argfs*20) P
2I (FKRP)P3142/F2PYes/NoYes (38)Yes/Yes1–1.5 K (30)4c.263A > T (p.Tyr88Phe) LPc.263A > T (p.Tyr88Phe) LP
P3223/M5PYes/NoYes (20)Yes/Yes> 10 K (12)4c.545A > G (p.Tyr182Cys) Pc.948delC (p.Cys317Alafs*111) P
P3347*/M^10PYes/NoYes (29)Yes/Yes1.5-2 K (31)4c.545A > G (p.Tyr182Cys) Pc.948delC (p.Cys317Alafs*111) P
P3438/M^17PYes/NoYes (33)Yes/Yes1.5-2 K (30)NDc.545A > G (p.Tyr182Cys) Pc.948delC (p.Cys317Alafs*111) P
P3518/M2PYes/NoYes (15)No/No6-9 K (10)4c.823C > T (p.Arg275Cys) Pc.948delC (p.Cys317Alafs*111) P
P3631/F2PYes/NoYes (12)Yes/Yes> 10 K (3)4c.823C > T (p.Arg275Cys) Pc.948delC (p.Cys317Alafs*111) P
P3742/F#10PYes/NoYes (38)Yes/Yes3 K (38)4c.545A > G (p.Tyr182Cys) Pc.151G > T (p.Val51Phe) VUS
P3825*/M#12PYes/NoNoYes/YesunknownNDc.545A > G (p.Tyr182Cys) Pc.151G > T (p.Val51Phe) VUS
2 N (POMT2)P39M/41 PYes/NoYes (35)No/Yes1862 (33)4c.1061A > G (p.Tyr354Cys) VUSc.1061A > G (p.Tyr354Cys) VUS
2Q (PLEC)P40M/293PNo/NoNot yetNo/Yes513 (6)7c.12731G > A (p.Arg4244His) VUSc.7928A > G (p.Glu2643Gly) VUS
  1. * expired; ^ and # siblings or family members; % in foster family; D distal, F female; K ×103, M male, ND not done, P proximal, Y year, P pathogenic, LP likely pathogenic, VUS variant of unknown significance (Ref [18])