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Table 3 Morphological data

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

Pt Morph First morph classification Age at biopsy muscle Optic microscopy Electron microscopy
fibre size variability connective tissue Nuclei fibre type cores rods other findings cores’ characteristics length (sarcomeres) other relevant findings
p1 DuCD CNM+ 45 ds n.r. + + I & C++ T1P and A dusty no V, CB -DC containing OFSM and STDF up to 30 SAD (>5 sarcomeres)
p2 DuCD CNM+ 26 ys D + - I & C (rare) T1U dusty no - -DC containing OFSM and STDF up to 30 TR (up to 4) inside dusty cores; SAD (5-8 sarcomeres); Z-line S+J; occasional aligned thickened Z-line fragments inside small areas of disorganization
p3 DuCD CNM+ 21 ys D + - I & C T1P and A dusty + targetoid no - -DC containing OFSM and STDF up to 20 ZB; AV; Hc; SAD (2-4 sarcomeres); aligned thickened Z-line fragments inside small areas of disorganization in 1 fibre
p4 DuCD CNM+ 20 days n.r. + + I & C T1P (mild) dusty (rare) no - -DC containing OFSM and STDF; multiple up to 30 TR inside dusty cores; SAD (2-4 sarcomeres); Z-line S (2 sarcomeres)
p5 DuCD CCD 8 ws n.r. + - I T1U dusty no V n.a. - -
p6 DuCD CNM+ 16 ys D +++ - I & C T1P and A dusty + targetoid no - -DC containing OFSM and STDF up to 30 TR (up to 7) inside dusty cores; SAD (3-6 sarcomeres); mitochondrial electrodense inclusion
p7 DuCD CCD/MFM 76 ys D + - I & C T1P dusty + targetoid no - -DC containing OFSM and STDF >20 TR inside dusty cores; perinuclear lipofuscin; SAD (3-6 sarcomeres)
p8 DuCD CCD 23 ys Q ++ - I & C T1P dusty no CB n.a. - -
p9 DuCD CCD 1 ys Q +++ ++ I T1P dusty no - -DC containing OFSM and STDF >15 TR inside dusty cores; SAD (5-6 sarcomeres); Z-line S
p10 DuCD CMN+/MmD 34 ys D +   I & C T1P dusty no - -DC containing OFSM and STDF up to-30 TR inside dusty cores; SAD (4-5 sarcomeres)
p11 DuCD CNM/CCD 48 ys n.r. + + I & C++ T1U dusty + targetoid no - -DC containing OFSM and STDF >30 CNM-like features with perinuclear disorganization and vacuolization and nuclear chains; occasional multiple areas of disorganization in the same fibre; SAD (few sarcomeres)
p12 DuCD CNM 15 days n.r. +++ - I & C normal no no - n.a. - -
CNM+ 4 mos D +++ + I & C T1P (mild) dusty no V -DC containing OFSM and STDF >15 -
CNM+ 12 ys P + +/- I & C T1U dusty + targetoid no - -DC containing OFSM and STDF >20 -
p13 DuCD CNM 6 ys n.r. + - I & C normal no no - n.a. - -
CNM+ 28 ys D + + I & C T1U dusty + targetoid no - -DC containing OFSM and STDF >20 TR inside dusty cores; inverted triads (T-tub/SR/T-tub); abundant T-tubules; SAD (4 sarcomeres); Z-line J
p14 DuCD CCD 9 ys D + + normal T1P dusty (rare) + targetoid no - -DC containing OFSM and STDF up to 30 TR (up to 5) inside dusty cores; occasional aligned thickened Z-line fragments inside small areas of disorganization
p15 DuCD CCD 3 ys n.r. +++ ++ normal T1P dusty no - n.a. - -
p16 DuCD CNM/MmD 57 ys D + - I & C++ T1P dusty + targetoid no - -DC containing OFSM and STDF up to 30 Z-line S+J; inside small areas of disorganization; SAD (2-4 sarcomeres)
p17 DuCD CCD/MmD 34 ys D + - I & C T1P dusty (rare) no - -DC containing OFSM and STDF up to 40 TR inside dusty cores; aligned thickened Z-line fragments in the peripheral areas of sarcomeric disorganization; SAD (2-3 sarcomeres); Z-line S
p18 DuCD CCD/C&R 25 ys Q ++ ++ I T1U dusty + targetoid no lipid -DC containing OFSM and STDF, targetoid only transversal TR + inverted duplicated triads (T-tub/SR/T-tub)
p19 DuCD CNM+ 4 ys Q + - I & C++ normal dusty no - -DC containing OFSM and STDF up to 15 TR (up to 6) inside dusty cores; SAD (5 sarcomeres)
p20 DuCD CNM/NM 7 ys TFL + + I & C++ T1P dusty no V, CB -DC containing OFSM and STDF up to 30 TR inside dusty cores; SAD (3-4 sarcomeres)
NM/vacuolar 15 ys P +++ +/- I & C T1P dusty no V n.a. - -
p21 DuCD CNM+ 5 ys Q + ++ I (mild) T1U dusty + targetoid no - n.a. - -
p22 DuCD CNM+ 21 days D + - I & C T1P & A dusty no - -DC containing OFSM and STDF up to 15 SAD (2 sarcomeres)
CNM+ 12 ys D + + I & C T1U dusty + targetoid no - normal - -
p23 DuCD CNM+ 8 ys Q + + I T1U dusty + targetoid no - -DC containing OFSM and STDF >20 SAD (6 sarcomeres)
p24 DuCD CCD 15 days Q +++ ++ I T1P dusty no - n.a. - -
CCD 1 ys D +++ ++ I & C T1P dusty + targetoid no V   - -
p25 DuCD CNM+ 43 ys D + + I & C T1P dusty + targetoid no - -DC containing OFSM and STDF up to 20 TR inside dusty cores; AV; medium-size (9-10 sarcomeres) areas of disorganization
p26 DuCD+CCD CCD 32 ys D +/- + I T1P eccentric + dusty (rare) no - -DC containing OFSM and STDF + UC up to 20 sarcomeric duplication (titin-like); SAD (3 sarcomeres)
p27 CCD CCD 16 ys D + - normal T1P eccentric (rare) no - n.a. - -
p28 CCD CCD n.r. Q + - I (mild) T1P eccentric no - n.a. - -
p29 CCD CCD 23 ys D +/- - I T1U multiple no - SC (multiple) >50 SAD (<10 sarcomeres); Z-line S
p30 CCD CCD 5 YS Q +/- +/- normal T1P central no - n.a. - -
p31 CCD CCD n.r. n.r. +/- - normal T1P eccentric no - n.a. - -
p32 CCD CCD 47 ys n.r. +/- - I T1P multiple eccentric no - n.a. - -
p33 CCD CCD 46 ys n.r. + + I T1U central no - UC >30 -
p34 CCD CCD n.r. n.r. + - I T1P central no - n.a. - -
p35 CCD CCD 35 ys D + + I T1U multiple no - UC >50 small to large areas of disorganization with Z line duplication
p36 CCD CCD 76 ys D + + I T1P eccentric no - normal - -
p37 C&R CCD 62 ys D + - I T1P dusty-like yes - UC >15 small (<5 sarcomeres) areas of desorganization
p38 C&R CCD 21 ys Q + + I T1U eccentric yes - UC >20 small (<3 sarcomeres) areas of desorganization
p39 C&R C&R 57 ys D +/- - normal T1P & eccentric yes - UC >20 small (<5 sarcomeres) areas of desorganization
p40 C&R C&R 25 ys D + - normal T1U multiple yes - UC & SC up to 20 small (<3 sarcomeres) areas of desorganization
p41 C&R C&R 33 ys D + + I T1U eccentric yes - UC & SC up to 30 -
p42 C&R CCD 2 ys D + + normal T1P eccentric yes - UC & SC >15 Focal areas of disorganization (2 sarcomeres) of z-line smearing
p43 C&R NM/CMD 1 day n.r. ++ ++ I (mild) T1P & A dusty-like yes - UC - -
p44 T1P+ T1P 3 ys n.r. + + I (mild) T1P & A MFD (mild) no - n.a. - -
p45 T1P+ T1P 3 ys n.r. + + I T1U normal no - no - cisternae enlargement
p46 T1P+ T1P 2 ys D +/- - normal T1U MFD (rare) no - no - -
p47 T1P+ T1P 4 ys n.r. - + normal T1U MFD (mild) no - no - -
p48 T1P+ T1P 14 ys n.r. + - normal T1P MFD (mild) no Alv no - unstructured areas with mitochondria
  1. DuCD Dusty core disease, CCD Central core disease, C&R Core-rod myopathy, T1P+ Type1 predominance “plus”, CNM Centronuclear myopathy, MmD Multiminicore disease, MFM Myofibrillar myopathy, CMD Congenital muscular dystrophy, NM Nemaline myopathy, D Deltoid, Q Quadriceps, P Paravertebralis muscles, TFL Tensor fascia lata, I Internalised, C Centralised, T1P Type1 predominance, T1U Type1 uniformity, and A Atrophy, -DC Irregular/star-shaped dusty core, OFSM Osmophilic filamentous smeared material, STDF Short thickened darker fragments, UC Unstructured cores, SC Structured cores, SAD Small areas of myofibrillar disorganization, TR Triad replication, ZB Zebra bodies, AV Autophagic vacuoles, Z-line S Streaming; Z-line, J Jagging, Hc Honeycomb figures