Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.

摘要: Abstract Nemaline myopathy is clinically and genetically heterogeneous. The most common autosomal recessive form affecting infants (NEM2) links to chromosome 2q, caused by mutations in the gene for nebulin. We have examined immunocytochemical expression of nebulin skeletal muscle 11 cases nemaline myopathy, from ten families, with linkage compatible 2q.22, locus Mutations been found eight these cases. Immunolabelling polyclonal antibodies C-terminal regions was compared fibre-type-specific myofibrillar proteins, including myosin heavy chain isoforms α-actinin isoforms. No showed a complete absence nebulin, no enhancement labelling rods seen conventional fluorescence microscopy. In control an antibody M176–181 repeat region higher fibres slow myosin, while ones serine-rich domain SH3 uniform expression. some differences patterns were observed. Two siblings homozygous mutation exon 185, that produces stop codon, only antibody, other uneven this or devoid label. Fibre type correlations also controls, as had fast isoform one protein but another. These results indicate analysis may detect abnormalities linked corresponding help direct molecular analysis. addition, they be relevant studies fibre plasticity diversity myopathy.