Intracellular localization of | |||||
---|---|---|---|---|---|
Gene | Disease/Mutation | Year of birth/Gender | αB-Crystallin | HSP27 | HSP90 |
Human muscles | |||||
– | (3×) Healthy CTRL | 1953/72/78/M | Z-disc | Z-disc/Cytosol | Cytosol |
CAPN3 | LGMD2Aa/Calpainopathy | I-band | I-band | I-band | |
1) p.Thr184Argfs & Trp130 > Cys | 1967/M | ||||
2) p.Thr184Argfs & p.Arg315Arg | 1957/M | ||||
3) p.Thr184Argfs & p.Gly329Arg | 1968/F | ||||
DMD | Duchenne muscular dystrophy | I-band | I-band | I-band | |
1) Del. exon 2–18 | 1998/M | ||||
2) Del. exon 3–11 | 2014/M | ||||
FLNC | Filaminopathy (2×) p.Val930_Thr/933del | 1960/M 1960/F | I-band | I-band | I-band |
TTN | Titinopathy/HMERFb (2×) p.Cys30071Arg | Unknown/Unknown | I-band | I-band | I-band |
MYOT | Myotilinopathy | I-band | I-band | I-band | |
1) p.Ser60Phe | 1928/M | ||||
2) p.Lys36Glu | 1940/F | ||||
VCP | IBMPFDc (Valosin-containing protein) | I-band | I-band | I-band | |
1) p.Arg93Cys | 1971/M | ||||
2) p.Arg155His | Unknown/M | ||||
DES | Desminopathy p.Arg350Pro | 1976/M | Cytosol | Cytosol | I-band/ Cytosol |
– | (3×) Sporadic inclusion body myositis (sIBM) | 1955/1998/2014/M | Z-disc | Z-disc/Cytosol | Cytosol |
Mouse muscles | |||||
– | Litter-matched WT CONTROLS | 2016/M | Z-disc | Z-disc/Cytosol | Cytosol |
FLNC | MFM filaminopathy p.W2711X | 2016/M | I-band | I-band | I-band |
DMD | mdx C57BL/10ScSn | 2016/M | I-band | I-band | I-band |