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Table 3 Primary and secondary protein abnormalities in muscular dystrophies

From: From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies

Disease Gene(s) Primary protein defect Secondary changes
DMD DMD Dystrophin absent or very reduced with all antibodies Utrophin overall upregulated
Sarcoglycans reduced/absent
Dystroglycan reduced/absent nNOS absent
BMD DMD Dystrophin reduced in size or amount or absent with at least one antibody Utrophin overall upregulated
Sarcoglycans reduced/absent
Dystroglycan reduced/absent
nNOS may be absent
DMD/BMD carriers DMD Dystrophin patchy, mosaic pattern with at least one antibody In fibres without dystrophin
Utrophin upregulated
Sarcoglycans reduced/absent
Dystroglycan reduced/absent
nNOS may be absent
EDMD1 EMD Emerin absent  
LGMD1A MFM MYOT Myotilin cytoplasmic aggregates Desmin, αB-crystallin, VCP cytoplasmic aggregates
LGMD1B EDMD2 EDMD3 LMNA Lamin A/C normally expressed  
LGMD1C rippling muscle disease hyperCKemia CAV3 Caveolin-3 absent/reduced Dysferlin reduced at the sarcolemma
LGMD2A CAPN3 Calpain 3 bands may be variably reduced on immunoblot, Iabelling may be absent or reduced on sections Dysferlin reduced at the sarcolemma
LGMD2B Miyoshi myopathy DYSF Dysferlin absent or very reduced Caveolin-3 reduced at the sarcolemma, calpain 3 bands may be reduced
LGMD2C-F SGCG SGCA
SGCB
SGCD
Sarcoglycans variably reduced/absent β-Dystroglycan may be reduced Dystrophin may be reduced
nNOS may be absent
LGMD2G TCAP Telethonin absent  
LGMD2I, K, M-O, DG-pathies FKRP POMT1 FKTN POMT2 POMGnT1 LARGE Not applicable Glycosylated α-dystroglycan very reduced/patchy
β-dystroglycan may be reduced
Laminin α2 may be reduced
MDC1A LAMA2 Laminin α2 completely or partially absent Laminin α5 overall upregulated
α-dystroglycan may be reduced
UCMD and Bethlem myopathy COL6A1 COL6A2 COL6A3 Collagen VI very reduced in UCMD, usually normally expressed in BMD  
MD with lipodystrophy PTRF PTRF-cavin absent/very reduced Caveolin-3 reduced at the sarcolemma
MFM DES Desmin cytoplasmic aggregates Myotilin, αB-crystallin, VCP cytoplasmic aggregates
MFM CRYAB αB-Crystallin cytoplasmic aggregates Myotilin, desmin, VCP cytoplasmic aggregates
IBMPFD VCP VCP cytoplasmic aggregates Myotilin, desmin, αB-crystallin cytoplasmic aggregates
  1. BMD = Becker muscular dystrophy; CK = creatine kinase; DG-pathies = dystroglycanopathies; DMD = Duchenne muscular dystrophy; EDMD = Emery-Dreifuss muscular dystrophy; IBMPFD = inclusion body myopathy with Paget's disease and frontotemporal dementia; LGMD = limb girdle muscular dystrophy; MD = muscular dystrophy; MDC = congenital muscular dystrophy; MFM = myofibrillar myopathy; nNOS = neuronal nitric oxide synthase; PTRF = polymerase I and transcript release factor; UCMD = Ulrich congenital muscular dystrophy; VCP = valosin-containing protein.