Table 1.
Morphological, clinical and genetic data overview
| Patient | Revised Morphology | Clinical Severity | Allele 1 | Allele 2 | RYR1 (WB) |
Ref. |
|---|---|---|---|---|---|---|
| p1 | DuCD | severe | c.3223C>T | c.7025A>G | 39% | this report |
| p2 | DuCD | moderate | c.8692+131G>A | c.8692+131G>A | 25% | [4] |
| p3 | DuCD | moderate | c.9413C>T | c.11314C>T | 34% | this report |
| p4 | DuCD | severe | c.9758T>C | c.8953C>T | n.a. | [6] |
| p5 | DuCD | severe | c.14170A>C | c.13949T>C | n.a. | this report |
| p6 | DuCD | mild | c.14731G>A | c.7006C>T | 25% | this report |
| p7 | DuCD | mild | c.14731G>A | c.10616G>A | 56% | this report |
| p8 | DuCD | mild | c.631+1G>A | c.14717C>T | n.a. | this report |
| p9 | DuCD | severe | c.13660- ?_14646- ?del987nt. | c.10348-6C>G; c.14524G>A | 7% | [1] |
| p10 | DuCD | moderate | c.10561G>T | c.9605C>T | n.a. | [4] |
| p11 | DuCD | mild | c.325C>T | c.6891+1G>T | n.a. | [1] |
| p12 | DuCD | severe | c.14524G>A; c.10348-6C>G | c.8342_8343delTA | 18% | [4] |
| p13 | DuCD | moderate | c.11999_12001del | c.6933delC | 25% | this report |
| p14 | DuCD | moderate | c.6418C>T | c.14483T>G | 37% | this report |
| p15 | DuCD | moderate | c.6418C>T | c.14483T>G | 32% | this report |
| p16 | DuCD | mild | c.7372C>T | c.1897C>T | 60% | this report |
| p17 | DuCD | mild | c.2648T>C | c.9157C>T | n.a. | this report |
| p18 | DuCD | mild | c.4711A>G;c.10097G>A;c.11798A>G | c.2361delG | 33% | this report |
| p19 | DuCD | mild | c.4225C>T | c.14126C>T | 23% | this report |
| p20 | DuCD | moderate | c.7615-3T>A | duplication at least exon 99-106 | 25% | this report |
| p21 | DuCD | mild | c.4711A>G;c.10097G>A;c.11798A>G | c.14731G>A | n.a. | this report |
| p22 | DuCD | moderate | c.14939C>T | c.12541G>A | n.a. | [4] |
| p23 | DuCD | mild | c.9892G>A | c.4953_4970dup | 18% | this report |
| p24 | DuCD | severe | c.644G>A | c.1840C>T | n.a. | [30] |
| p25 | DuCD | mild | c.6721C>T | c.7268T>A | 42% | this report |
| p26 | DuCD+CCD | mild | c.4711A>G;c.10097G>A;c.11798A>G | c.14537C>T | 63% | this report |
| p27 | CCD | mild | c.6617C>T | c.6617C>T | 76% | this report |
| p28 | CCD | mild | c.7304G>T | c.7304G>T | n.a. | this report |
| p29 | CCD | mild | c.13502C>T | c.14386T>C | 40% | this report |
| p30 | CCD | mild | c.11708G>A | c.11708G>A | 45% | this report |
| p31 | CCD | severe | c.10348-6C>G; c.14524G>A | c.7324-1G>T | 14% | [27] |
| p32 | CCD | mild | c.2938C>T | c.7372C>T | 47% | this report |
| p33 | CCD | mild | c.4711A>G;c.10097G>A;c.11798A>G | c.13691G>A | n.a. | this report |
| p34 | CCD | moderate | c.212C>A | c.6847A>C | n.a. | this report |
| p35 | CCD | moderate | c.5036G>A | c.464A>C | 51% | this report |
| p36 | CCD | mild | c.14126C>T | c.7063C>T | 52% | this report |
| p37 | C&R | mild | c.4711A>G;c.10097G>A;c.11798A>G | c.2984G>A | 60% | this report |
| p38 | C&R | mild | c.10579C>T | c.10579C>T | n.a. | this report |
| p39 | C&R | mild | c.14928C>G | c.4711A>G;c.9356G>A;c.10097G>A;c.11798A>G | 57% | this report |
| p40 | C&R | moderate | c.14624T>C | c.3619G>A | 20% | this report |
| p41 | C&R | mild | c.14731G>A | c.6359T>C | 52% | this report |
| p42 | C&R | mild | c.11557G>A | c.115G>A | 52% | this report |
| p43 | C&R | severe | c.14928C>G | c.2044C>T | n.a. | this report |
| p44 | T1P+ | moderate | c.12536G>A | c.9605C>T | 54% | this report |
| p45 | T1P+ | moderate | c.6860C>A | c.14939C>T | n.a. | [6] |
| p46 | T1P+ | mild | c.10579C>T | c.10579C>T | n.a. | [8] |
| p47 | T1P+ | moderate | c.10579C>T | c.10579C>T | n.a. | this report |
| p48 | T1P+ | moderate | c.12861_12869dupCACGGCGGC | c.12861_12869dupCACGGCGGC | 79% | this report |
DuCD Dusty core disease, CCD Central core disease, C&R Core-rod myopathy, T1P+ Type1 predominance “plus”, n.a. Not assessed