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Table 1 Morphological, clinical and genetic data overview

From: ‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

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
  1. DuCD Dusty core disease, CCD Central core disease, C&R Core-rod myopathy, T1P+ Type1 predominance “plus”, n.a. Not assessed