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Table 1 Overview of human and mouse muscle samples studied and intracellular localization of major chaperones

From: Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function

  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
  1. aLGMD2A, Limb girdle muscular dystrophy type 2A
  2. bHMERF, Hereditary myopathy with early respiratory failure
  3. cIBMPFD, Inclusion body myopathy with Paget disease and frontotemporal dementia