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Table 2.

Summary of the complete study

Folding Binding to ABPs Polymerization In NIH fibroblasts Severity
Category I: folding defect      
    L94P   No   No   Not done   Not done   Severe NEM  
    E259V   No   No   Not done   Not done   Severe NEM  
Category II: fold, binds to CAP      
    G15R   Stays on CAP without ATP   Yes   WT   SF, small cytoplasmic rods, cytoplasmic aggregates   AM  
    N115S   Stays on CAP without ATP   Yes   <WT   Not done   Mild and typical NEM  
    V163L   Stays on CAP without ATP   Yes   WT   Nuclear and cytoplasmic aggregates, IR no SF   AM, IRM  
    G182D   Stays on CAP with/without ATP   Not thymosin β4   <WT   SF, actin dots   Typical NEM  
Category III: copolymerisation defect      
    I64N   Yes   Partially to DNasel   <WT   SF, cytoplasmic aggregates and rods   Typical NEM  
    I136M   Yes   Yes   <WT   SF   Typical NEM  
    G268C   Yes   Yes   <WT   Not done   Mild NEM  
    R183G/Q263L   Yes   Yes   <WT   Not done   Severe NEM  
    N280K/V370F       
    G268R   Yes   Yes   <WT   SF   Severe NEM  
    I357L   Yes   Yes   <WT   SF, actin dots   Severe NEM, IRM  
Category IV: no defect in vitro      
    H40Y   Yes   Yes   WT   Nuclear and cytoplasm aggregates, IR no SF   Severe NEM, IRM  
    M132V   Yes   Yes   <WT   SF   Mild NEM  
    R183C   Yes   Yes   <WT   Not done   Severe NEM  
    D286G   Yes   Yes   <WT   Aggregates and abnormal SF   Severe NEM  
Folding Binding to ABPs Polymerization In NIH fibroblasts Severity
Category I: folding defect      
    L94P   No   No   Not done   Not done   Severe NEM  
    E259V   No   No   Not done   Not done   Severe NEM  
Category II: fold, binds to CAP      
    G15R   Stays on CAP without ATP   Yes   WT   SF, small cytoplasmic rods, cytoplasmic aggregates   AM  
    N115S   Stays on CAP without ATP   Yes   <WT   Not done   Mild and typical NEM  
    V163L   Stays on CAP without ATP   Yes   WT   Nuclear and cytoplasmic aggregates, IR no SF   AM, IRM  
    G182D   Stays on CAP with/without ATP   Not thymosin β4   <WT   SF, actin dots   Typical NEM  
Category III: copolymerisation defect      
    I64N   Yes   Partially to DNasel   <WT   SF, cytoplasmic aggregates and rods   Typical NEM  
    I136M   Yes   Yes   <WT   SF   Typical NEM  
    G268C   Yes   Yes   <WT   Not done   Mild NEM  
    R183G/Q263L   Yes   Yes   <WT   Not done   Severe NEM  
    N280K/V370F       
    G268R   Yes   Yes   <WT   SF   Severe NEM  
    I357L   Yes   Yes   <WT   SF, actin dots   Severe NEM, IRM  
Category IV: no defect in vitro      
    H40Y   Yes   Yes   WT   Nuclear and cytoplasm aggregates, IR no SF   Severe NEM, IRM  
    M132V   Yes   Yes   <WT   SF   Mild NEM  
    R183C   Yes   Yes   <WT   Not done   Severe NEM  
    D286G   Yes   Yes   <WT   Aggregates and abnormal SF   Severe NEM  

Results obtained in vitro and in cell expression are summarized, as well as the patient phenotypes per category of defect.

AM, actin myopathy-excess thin filaments; IR, intranuclear rods; IRM, IR myopathy; NEM, nemaline myopathy; SF, stress fibers; WT, same as the wild type; <WT, less than the wild type.

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