-transparent.png){kind=logo}
The quantity and the electrophoretic characteristics of desmin were analyzed in a familial skeletal muscle disorder, characterized by the intra-sarcoplasmic accumulation of an electron-dense granulo-filamentous material facing the Z-lines and reacting strongly with polyclonal anti-desmin antibodies. The analysis was performed on biopsies from the deltoid muscles of 4 patients, members of 2 families. In the 4 biopsies, an increase in the relative amount of desmin compared to that of actin or insoluble proteins (3 fold) and in the number of isovariants (6 instead of 3) was observed. The isovariants of desmin were similar to those described in Purkinje fibres of the heart as a phosphorylated form of the protein [(1987) Eur. J. Cell Biol. 44, 68-78]. Therefore, post-translational events could affect both the polymerization and the amount of desmin filaments in this autosomal dominant familial myopathy.
L Rappaport, and
F Contard, and
J L Samuel, and
C Delcayre, and
F Marotte, and
F Tomè, and
M Fardeau
May 1999,
Acta neuropathologica,
L Rappaport, and
F Contard, and
J L Samuel, and
C Delcayre, and
F Marotte, and
F Tomè, and
M Fardeau
May 1994,
Clinical cardiology,
L Rappaport, and
F Contard, and
J L Samuel, and
C Delcayre, and
F Marotte, and
F Tomè, and
M Fardeau
April 2004,
Brain : a journal of neurology,
L Rappaport, and
F Contard, and
J L Samuel, and
C Delcayre, and
F Marotte, and
F Tomè, and
M Fardeau
January 2001,
Ryoikibetsu shokogun shirizu,
L Rappaport, and
F Contard, and
J L Samuel, and
C Delcayre, and
F Marotte, and
F Tomè, and
M Fardeau
June 1993,
Journal of neurology, neurosurgery, and psychiatry,
L Rappaport, and
F Contard, and
J L Samuel, and
C Delcayre, and
F Marotte, and
F Tomè, and
M Fardeau
April 1982,
Rinsho shinkeigaku = Clinical neurology,
L Rappaport, and
F Contard, and
J L Samuel, and
C Delcayre, and
F Marotte, and
F Tomè, and
M Fardeau
May 1984,
Archives of neurology,
L Rappaport, and
F Contard, and
J L Samuel, and
C Delcayre, and
F Marotte, and
F Tomè, and
M Fardeau
October 1996,
Human genetics,
L Rappaport, and
F Contard, and
J L Samuel, and
C Delcayre, and
F Marotte, and
F Tomè, and
M Fardeau
August 1998,
Nature genetics,
L Rappaport, and
F Contard, and
J L Samuel, and
C Delcayre, and
F Marotte, and
F Tomè, and
M Fardeau
March 2003,
Neuromuscular disorders : NMD,
