General introduction
Clinical phenotypes
Epidemiology
Skeletal muscle disease
Cardiac disease
Pulmonary and miscellaneous disease manifestations
Disease progression and mortality
Muscle biopsy findings
Light microscopy
Immunodetection
Electron microscopy
Cardiac pathology
Differential diagnosis
Genetics of desminopathies
Human desmin gene
Desmin mutation spectrum
Row no. | Domain | Mutation | Mutation type | Mode of inheritance | Phenotype | Histology | References |
---|---|---|---|---|---|---|---|
1 | Head | Ser2lle | Missense | AD | gM, cM, ri | sva | |
2 | Ser7Phe | Missense (Fig. 2 of reference) | AD | n.a. | n.a. | ||
3 | Ser12Phe | Missense | AD | pM, dM, cM, ary | sva, atf, intN, rvac | [83] | |
4 | Ser13Phe | Missense | AD | pM, dM, cM, ary | sva, atf, intN, rvac | ||
5 | Arg16Cys | Missense | AR | cM, ary | atf, intN, rvac | ||
6 | Ser46Phe | Missense | AD | n.a. | sva | [167] | |
7 | Ser46Tyr | Missense | AD | n.a. | sva | [167] | |
8 | Coil 1A | Glu108Lys | Missense | AD | cM, ary | n.a. | [178] |
9 | Gln113fsX115 | Frame shift | SP | gM, cM, ary | sva, intN | [83] | |
10 | Glu114del | Small in-frame deletion | AD | gM, cM, ary | sva, intN, ppa | [186] | |
11 | Asn116Ser | Missense | SP | (gM), cM, ary | sva, atf | [92] | |
12 | Lys144X | Frame shift | AD | gM, cM, ary, ri | n.a. | [190] | |
13 | Coil 1B | Arg173_Glu179del | Small in-frame deletion | AR | gM, cM, ri, ary | atf, intN, ppa | |
14 | Ala213Val | Missense, putative polymorphism | AD, SP | pM, dM, cM, ary | Necrosis, ppa | ||
15 | Asp214_Glu245del | Splice site mutations leading to loss of exon 3: c.640-2A>T, c.640-1 G>A, c.735G>C, c.735G>T, c.735 + 1G>A, c.735 + 3A>G | AD, SP | gM, pM, cM, 4par, ary, ri | sva, rvac, ppa | ||
16 | Lys240del | Small in-frame deletion, corrected from p.Lys239fsX242 (*) | AD | gM pM, ary | sva, ppa | ||
17 | Glu245Asp | Missense | AD | gM 4par, cM, ary, (ri) | sva, atf, intN, rvac | ||
18 | Coil 2 | Leu274Arg | Missense | AD | gM cM, ary | sva, intN | [83] |
19 | Leu274Pro | Missense | AD | gM cM, ary | sva, intN | [83] | |
20 | Ser298Leu | Missense | AD | cM ary | n.a. | [178] | |
21 | Asp312Asn | Missense | AD | cM | n.a. | [178] | |
22 | Arg335Pro | Missense | AD | gM ary | sva, intN | [83] | |
23 | Asp336Tyr | Missense | AD | gM cM, ary | n.a. | [190] | |
24 | Ala337Pro | Missense | AD | gM pM, dM, cM, ary, ri | atf, intN, ppa | ||
25 | Leu338Arg | Missense | AD | gM pM, dM, ri | ppa | ||
26 | Asp339Tyr | Missense | SP | dM ri | n.a. | [173] | |
27 | Asn342Asp | Missense | AD, SP | gM pM, dM, cM, ri, ary | atf, intN, ppa | ||
28 | Leu345Pro | Missense | AD | pM dM, cM, ary | sva, atf, intN, rvac | ||
29 | Arg350Pro | Missense | AD | gM pM, dM, spM, cM, ary | sva, atf, intN | ||
30 | Arg350Trp | Missense | AD | cM | n.a. | [178] | |
31 | Arg355Pro | Missense | AD | gM pM,dM,cM | sva, atf, intN | ||
32 | Ala357Pro | Missense | AD | gM pM, dM, spM, ri | atf, ppa | [39] | |
33 | Glu359_Ser361del | Small in-frame deletion | AD | gM pM,dM | atf, ppa | [89] | |
34 | Ala360Pro | Missense, compound heterozygote (Asn393lle) | AR | gM pM, dM, cM, ary, ri | atf, intN, ppa | ||
35 | Asn366del | Small in-frame deletion | AD | gM pM, dM, cM, ary, ri | ppa | ||
36 | Ne367Phe | Missense | AD | gM pM, dM, cM, ary, ri | sva, intN, rvac, ppa | [128] | |
37 | Leu370Pro | Missense | AD | gM pM, dM, cM, ary, ri | sva, atf, intN, rvac, ppa | ||
38 | Leu377Pro | Missense | SP | gM cM, ri | n.a. | [173] | |
39 | Leu385Pro | Missense | SP | gM cM, ary, ri | sva | [174] | |
40 | Gln389Pro | Missense | SP | pM dM, cM, ary | sva, ppa | [62] | |
41 | Leu392Pro | Missense | AD | gM pM, dM, cM, ary, ri | sva, intN, rvac, ppa | [128] | |
42 | Asn393lle | Missense, compound heterozygote (Ala360Pro) | AR | gM cM, ary, ri | atf, intN, ppa | ||
43 | Asp399Tyr | Missense | AD | pM dM, cM, ri, ary | atf, ppa | [62] | |
44 | Glu401Lys | Missense | SP | gM pM, dM, cM, ary, ri | atf, ppa, rvac | [62] | |
45 | Arg406Trp | Missense | AD, SP | gM pM, dM, cM, ary, ri | atf, intN | ||
46 | Tail | Glu413Lys | Missense | AD | gM pM, dM, cM, ary | sva, atf, intN, ppa | |
47 | Glu413Arg | Missense | AD | gM cM, ary | n.a. | [190] | |
48 | Arg415Trp | Missense (Fig. 2 of reference) | AD | n.a | n.a. | ||
49 | Pro419Ser | Missense | AD | gM pM, dM,cM, ary | sva, intN, rvac, ppa | ||
50 | Glu439Lys | Missense | AD | gM cM, ary | n.a. | [190] | |
51 | Thr442lle | Missense | AD, SP | gM pM, dM, cM, ary | atf, intN, rvac | ||
52 | Thr445Ala | Missense | SP | gM ri | atf, intN, rvac | [83] | |
53 | Lys449Thr | Missense | AD, SP | n.a | n.a. | ||
54 | lle451Met | Missense | AD, SP | gM pM, dM, cM, ri | atf, intN, rvac, ppa | ||
55 | Thr453lle | Missense | AD, SP | cM ary | ppa | [4] | |
56 | Arg454Trp | Missense | AD, SP | gM pM, dM, cM, ary, ri | atf, ppa | ||
57 | Glu457Val | Missense | AD | gM cM, ary | sva, atf, intN | [83] | |
58 | Val459lle | Missense | AD | cM ary | n.a. | [190] | |
59 | Ser460lle | Missense | AD | pM dM, cM, ary | sva, atf, rvac | ||
60 | Val469Met | Missense | AD | pM dM,cM | n.a. | ||
61 | X471Tyr | Missense/loss of stop codon | AD | pM dM, ary | n.a. | [190] |
Row no. | Immunostains | Ultrastructure | Assembly of Mut | Assembly mix Mut/WT | Tranfection into IF negative cell | Tranfection into IF positive cell | References |
---|---|---|---|---|---|---|---|
1 | n.a. | n.a. | FNF, (Irw) | FNF | FNF (SW13), FNF (VimK0 MEF) | FNF (HL-1) | |
2 | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | |
3 | des, abc, dys | GFM | n.a. | n.a. | Agg (SW13) | Agg (C2C12) | [83] |
4 | des | Microgranular densities | Agg | FNF | FNF/Agg (MCF7), SFF (SW13), FNF/Agg (VimK0 MEF) | FNF/Agg (BHK21), Agg (HL-1) | |
5 | des | Dense material | Agg | FNF | FNF (SW13), FNF/Agg (VimK0 MEF) | Agg(HL-1) | |
6 | n.a. | n.a. | FNF, (Irw) | FNF | SFF (SW13), FNF (VimK0 MEF) | FNF (HL-1) | [167] |
7 | n.a. | n.a. | FNF, (Irw) | FNF | SFF (SW13), FNF (VimK0 MEF) | FNF (HL-1) | [167] |
8 | n.a. | n.a. | n.a. | n.a. | FNF (SW13) | FNF (hcasmc, nrcm) | [178] |
9 | des, abc, dys, hyalin | GFM | n.a. | n.a. | Agg (SW13) | Agg (C2C12) | [83] |
10 | des | GFM | n.a. | n.a. | Agg (SW13), Agg(3T3) | Agg (C2C12) | [186] |
11 | des, myotilin | GFM | Agg | FNF, Agg | Agg (SW13) | n.a. | [92] |
12 | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | [190] |
13 | des | GFM | SFF | SFF | n.a. | Agg (MCF7) | |
14 | n.a. | n.a. | Agg | FNF (SW13), Agg (BMGE + H) | FNF(C2C12) | ||
15 | des | GFM | n.a. | n.a. | n.a. | n.a. | |
16 | des, syn, pic, ubi | GFM | n.a. | n.a. | Agg (SW13) | Agg (BHK21) | |
17 | des | GFM | n.a. | n.a. | n.a. | n.a. | |
18 | des, abc, dys | GFM | n.a. | n.a. | Agg (SW13) | Agg (C2C12) | [83] |
19 | des, abc, dys | GFM | n.a. | n.a. | Agg (SW13) | Agg (C2C12) | [83] |
20 | n.a. | n.a. | n.a. | n.a. | Agg (SW13) | Agg (hcasmc, nrcm) | [178] |
21 | n.a. | n.a. | n.a. | n.a. | Agg (SW13) | Agg (hcasmc, nrcm) | [178] |
22 | des | GFM | n.a. | n.a. | Agg (SW13) | Agg (C2C12) | [83] |
23 | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | [190] |
24 | des | GFM | n.a. | n.a. | Agg (SW13) | Agg (C2C12) | |
25 | n.a. | n.a. | n.a. | n.a. | Agg (SW13) | Agg (C2C12) | |
26 | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | [173] |
27 | des | GFM | n.a. | n.a. | Agg (SW13) | n.a. | |
28 | des, vim, nestin | GFM | n.a. | n.a. | Agg (SW13) | Agg (HeLa) | |
29 | des, abc, pic | GFM | ULF | Agg | Agg (MCF7, SW13, BMGE + H) | Agg (3T3-L1) | |
30 | n.a. | n.a. | n.a. | n.a. | Agg (SW13) | Agg (hcasmc, nrcm) | [178] |
31 | des, abc, dys, hyalin | GFM | n.a. | n.a. | n.a. | n.a. | |
32 | des | GFM | n.a. | n.a. | Agg (SW13) | Agg (BHK21) | [39] |
33 | abc | GFM | n.a. | n.a. | Agg(SW13) | Agg (BHK21) | [89] |
34 | des | GFM | n.a. | n.a. | Agg (SW13) | FNF (C2C12) | |
35 | des | GFM | n.a. | n.a. | Agg (SW13) | Agg (BHK21) | |
36 | des, abc, fine, dys | GFM | n.a. | n.a. | n.a. | n.a. | [128] |
37 | des | Disrupted myofibrils, GFM | n.a. | n.a. | Agg (SW13) | Agg (BHK21) | |
38 | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | [173] |
39 | des | GFM | n.a. | n.a. | n.a. | Agg/cell death (COS-7, CHO) | [174] |
40 | des | GFM | Agg | Agg | Agg (SW13) | Agg (MCF7, C2.7) | [62] |
41 | des, abc, fine, dys | GFM | n.a. | n.a. | n.a. | n.a. | [128] |
42 | des | GFM | n.a. | n.a. | Agg (SW13) | Agg (C2C12) | |
43 | n.a. | n.a. | n.a. | n.a. | Agg (SW13) | Agg (C2C12) | [62] |
44 | n.a. | n.a. | n.a. | n.a. | Agg (SW13) | Agg (C2C12) | [62] |
45 | des | GFM | n.a. | n.a. | Agg (SW13) | n.a, | |
46 | des | GFM | ULF | FNF, SFF | Agg (SW13) | Agg (C2C12) | |
47 | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | [190] |
48 | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | |
49 | des, abc, fine, dys | GFM | n.a. | n.a. | n.a. | n.a. | |
50 | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | [190] |
51 | des | GFM | FNF | FNF | FNF (SW13), FNF (VimK0 MEF) | FNF (C2C12, HL-1) | |
52 | des, abc, dys, hyalin | GFM | n.a. | n.a. | Agg (SW13) | Agg (C2C12) | [83] |
53 | n.a. | FNF | FNF | FNF | FNF (VimK0 MEF) | FNF (HL-1) | |
54 | des | FNF | FNF | FNF | FNF (SW13), FNF (VimK0 MEF) | FNF (SW13, C2.7, MCF7, HL-1) | |
55 | des | Dense material | n.a. | n.a. | n.a. | n.a. | [4] |
56 | des | GFM, NSA | SFF | FNF | Agg (SW13) | FNF (C2C12) | |
57 | des, abc, dys, hyalin | GFM | n.a. | n.a. | Abnormal FNF (SW13) | Aberrant FNF (C2C12) | [83] |
58 | n.a. | n.a. | n.a. | n.a. | FNF/Agg (SW13) | Agg (hcasmc, nrcm) | [190] |
59 | des | GFM | FNF | FNF | Agg (SW13), FNF (VimK0 MEF) | FNF (C2C12, HL-1) | |
60 | n.a. | FNF | FNF | FNF | FNF (SW13), FNF (VimK0 MEF) | FNF (C2C12, HL-1) | |
61 | n.a. | n.a. | n.a. | n.a. | n.a. | n.a. | [190] |