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Table 1 Clinical profiles, muscle pathology and PNPLA2 mutations from 45 neutral lipid storage disease with myopathy (NLSDM) patients

From: Neutral lipid storage disease with myopathy in China: a large multicentric cohort study

No.
(Family)
S/A/D Initial symptoms Weakness Distribution Severe limbsa Subtype JA Muscle pathology PNPLA2 mutations Parental derivation Domain
P1 (F1) M/4/1 HyperCK NA NA AH + Lipid c.659_667del, p.Y220_L222del P/M  
P2(F2) F/4/22 EI P B/LL S/C + Lipid c.353 T > C p.L118P M PA
         c.356C > A, p.T119 N P PA
p3(F3) F/46/3 B/LL P R/UL S + Lipid/RVs c.478_479 insCTCC, p.Q160Pfsa19 NA/NA  
P4(F4) F/48/4 B/UL, LL P B/LL S/C + Lipid/RVs c.245G > A, p.G82D M PA
         c.564G > A, p.S188= NA  
P5(F5) F/29/6 Palpitation NA NA C + Lipid c.333_334del, p.S111Rfsa66 NA/NA  
P6(F6) M/23/19 Palpitation NA NA C NA Lipid c.918del, p.A307Pfsa13 P/M  
P7(F7) M/21/1 Chest pain NA NA C + Lipid c.757 + 1G > T P/NA  
P8 (F8) F/41/5 B/UL P B/UL S + Lipid/RVs c.245G > A, p.G82D P/M PA
P9 (F8) M/33/5 Palpitation NA NA C + Lipid c.245G > A, p.G82D P/M PA
P10 (F9) F/35/5 B/UL, LL P B/UL S + Lipid/RVs c.187 + 1G > A P/M  
P11 (F9) M/35/20 Hearing loss D B/LL S/C + Lipid/RVs c.187 + 1G > A P/M  
P12(F10) M/31/13 R/LL P R/UL S/C NA Lipid c.187 + 1G > A P/M  
P13(F10) M/27/15 R/UL P R/UL S/C + Lipid/RVs c.187 + 1G > A P/M  
P14(F11) M/41/3 R/UL, LL P R/UL S/C + Lipid/RVs c.757 + 2 T > C NA  
         c.749A > C, p.Q250P NA  
P15(F12) F/45/3 R/UL D R/UL S + Lipid/RVs c.757 + 1G > T NA/NA  
P16(F13) M/38/1 R/UL P R/UL S + Lipid c.467del, p.P156Lfsa100 NA/NA  
P17(F14) M/22/6 R/LL D B/LL S + Lipid/RVs c.434G > A, p.S145 N NA/NA PA
P18(F15) F/42/7 R/UL P R/UL S/C + Lipid/RVs c.6_7insT, p.P3Sfsa62 NA/NA  
P19(F16) M/34/1 R/UL, LL P B/UL S/C + Lipid c.475_476 insCTCC, L159Pfsa20 NA/NA  
P20(F17) M/35/6 R/UL, LL P R/UL S + Lipid/RVs c.467del, p.P156Lfsa100 NA/NA  
P21(F18) M/36/6 B/UL, LL P R/UL S + Lipid/RVs c.697-1G > A NA/NA  
P22(F19) M/3.5/0.17 HyperCK NA NA AH + Lipid c.516C > G p.N172K M PA
         c.918del, p.A307Pfsa13 P  
P23(F20) F/34/7 R/UL, LL P R/UL S/C + NA c.291_292insT, p.L98Pfsa8 NA/NA  
P24(F21) F/26/2 B/UL, LL P B/UL S/C NA Lipid c.757 + 1G > T NA/NA  
P25(F22) F/17/17 B/UL P B/UL S/C NA Lipid c.798delC, p.A267P fsa53 NA/NA  
P26(F23) M/22/5 B/LL P R/UL S/C NA Lipid c.475_476 insCTCC, p.L159Pfsa20 NA/NA  
P27(F24) F/30/11 B/LL P R/UL S/C NA Lipid c.757 + 1G > T NA/NA  
P28(F25) F/36/6 B/LL P R/UL S/C NA Lipid c.245G > A, p.G82D NA/NA PA
P29(F26) F/40/10 B/UL P B/UL S/C + Lipid c.245G > A p.G82D NA/NA PA
         c.516 del p.L173C fsa83 NA/NA  
P30(F27) F/40/13 R/UL P R/UL S/C + Lipid/RVs c.245G > A, p.G82D NA/NA PA
P31(F28) F/32/9 B/UL P R/UL S + Lipid/RVs c.187 + 1G > A P/M  
P32(F29) F/29/4 R/UL P R/UL S + Lipid/RVs c.757 + 1G > T P/M  
P33(F30) M/37/3 R/UL P R/UL S NA Lipid/RVs c.757 + 2 T > C P  
         c.749A > C, p.Q250P M  
P34(F31) F/42/9 R/UL P R/UL S + Lipid/RVs c.245G > A, p.G82D P PA/
         c.922 del, p.L308Cfsa12 M  
P35(F32) F/41/3 R/UL P B/UL S/C NA Lipid c.187 + 1G > A P/M  
P36(F32) F/40/5 R/UL D B/LL S NA Lipid/RVs c.187 + 1G > A P/M  
P37(F33) F/26/9 R/UL P R/UL S NA Lipid c.757 + 1G>T NA/NA  
P38(F34) F/44/7 B/UL,LL P B/UL S/C NA Lipid c.757 + 1G > T NA/NA  
p39(F35) F/30/3 R/UL P R/UL S/C + Lipid c.757 + 1G>T P/M  
p40(F36) F/30/2 R/LL P R/UL S + Lipid/RVs c.750_757del, p.R251Pfsa53 NA/NA  
P41(F37) M/17/7 B/LL P R/UL S + NA c.757 + 1G > T P/M  
P42(F37) M/21/1 EI D B/LL S + NA c.757 + 1G > T P/M  
P43(F38) F/40/10 R/UL D R/UL S/C NA Lipid/RVs c.757 + 1G > T NA/NA  
P44(F39) F/27/6 R/UL P R/UL S NA Lipid c.757 + 1G > T NA/NA  
P45(F40) F/30/8 R/UL P R/UL S/C + Lipid/RVs c.757 + 1G > T NA/NA  
  1. Abbreviations: S/A/D Sex/onset Age (years)/Duration (years); JA Jordan’s anomaly; R right; B Both; UL upper limb weakness; LL lower limb weakness, EI Exercise intolerance; P proximal; D distal; NA not applicable; S skeletal myopathy; C cardiomyopathy; S/C skeletal myopathy with cardiomyopathy; AH asymptomatic hyperCKemia; RVs rimmed vacuoles; P Paternal; M, Maternal; PA patatin domain
  2. aSevere limbs refer to the most severely involved limbs in physical examination.