[The atypical of Werner syndrome: effect of laminopathy].
A case of adult progeria has been described. During detailed studies of the cells from this patient the nuclear lamina and cytoskeleton aberrations were detected. It has been suggested that this case is an atypical form of Werner syndrome with laminopathy--not the WRN helicase-nuclease defect.
Smirnova
N V
NV
Spivak
I M
IM
Pleskach
N M
NM
Mikhel'son
V M
VM
D000328:Adult; D002478:Cells, Cultured; D003599:Cytoskeleton / Q000473:pathology; D005347:Fibroblasts / Q000378:metabolism / Q000648:ultrastructure; D006801:Humans; D034904:Lamin Type A / Q000235:genetics* / Q000378:metabolism; D034881:Nuclear Lamina / Q000378:metabolism / Q000648:ultrastructure*; D014898:Werner Syndrome / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*
C494847:LMNA protein, human; D034904:Lamin Type A