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 | Â |
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 | Â |
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 | Â |
P6(F6) | M/23/19 | Palpitation | NA | NA | C | NA | Lipid | c.918del, p.A307Pfsa13 | P/M | Â |
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 | Â |
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 | Â |
P19(F16) | M/34/1 | R/UL, LL | P | B/UL | S/C | + | Lipid | c.475_476 insCTCC, L159Pfsa20 | NA/NA | Â |
P20(F17) | M/35/6 | R/UL, LL | P | R/UL | S | + | Lipid/RVs | c.467del, p.P156Lfsa100 | NA/NA | Â |
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 |
| Â | Â | Â | Â | Â | Â | Â | Â | c.918del, p.A307Pfsa13 | P | Â |
P23(F20) | F/34/7 | R/UL, LL | P | R/UL | S/C | + | NA | c.291_292insT, p.L98Pfsa8 | NA/NA | Â |
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 | Â |
P26(F23) | M/22/5 | B/LL | P | R/UL | S/C | NA | Lipid | c.475_476 insCTCC, p.L159Pfsa20 | NA/NA | Â |
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 |
| Â | Â | Â | Â | Â | Â | Â | Â | c.516 del p.L173C fsa83 | NA/NA | Â |
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/ |
| Â | Â | Â | Â | Â | Â | Â | Â | c.922 del, p.L308Cfsa12 | M | Â |
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 | Â |
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 |  |