Severely reduced to absent SYNE1 staining in muscle tissue of
SYNE1
patients
. Immunohistological findings in control tissue (
A
,
E
and
I
), as well as in the quadriceps muscle biopsies of three different
SYNE1
patients from three different countries: Patient 13-1, Belgian (
B
,
F
and
J
); Patient 10-1, German (
C
,
G
and
K
); and Patient 6-1, Italian (
D
,
H
and
L
). All three patients show a severely reduced to absent staining of the nuclear envelope after immunolabelling of nesprin-1 (
B
–
D
), whereas staining was normal in the control (
A
) (peroxidase-antiperoxidase technique). To control for an unspecific lack of staining in the SYNE1 patients, further control stainings were performed. Immunolabelling of emerin and lamin A/C at the inner nuclear membrane was normal in all three patients as well as the control (
E
–
H
and
I
–
L
, respectively) (avidin-biotin complex technique).