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 |