Figure 3

Compound heterozygosity for the exon 13 and exon 81 mutations is associated with dramatic reduction of nebulin protein levels in NM muscle. (A) Nebulin expression in comparison to myosin heavy chain (MHC) expression is shown using extracted protein from a control patient (Con) or from patient 16-2 (16-2). (B) Nebulin was detected using antibodies directed against either the N-terminal (N-term) or the C-terminal (C-term) regions of nebulin. Only the C-terminal antibody reacted with nebulin in the NM sample and reveals a barely detectable doublet. (C) Comparison of nebulin expression in control patients (Con), patient 16-2 (16-2) and a patient with nemaline myopathy caused by a mutation in exon 55 (Ex 55). (D) Quantification of nebulin expression (normalized to MHC expression and expressed as a percentage of the values seen in controls) in four patients with nemaline myopathy caused by mutations in exon 55 in comparison to the expression measured in patient 16-2. Values shown are means ± standard error of the mean (SEM).