Nature1 年
A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy
Figure 3: Cytoplasmic aggregates are formed in desmin-containing cells transfected with R120G αB-crystallin cDNA. Figure 4: Ultrastructural analysis of aggregates in BHK21 cells transfected with ...
Nature9 天
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
In both affected siblings, an accumulation of amorphous material immunoreactive for desmin, dystrophin and vimentin was observed in the cytoplasm of the skeletal muscle cells. An uncle and the ...