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Myasthenic syndrome caused by plectinopathy.
[epidermolysis bullosa simplex]
Plectin
crosslinks
intermediate
filaments
to
their
targets
in
different
tissues
.
Defects
in
plectin
cause
epidermolysis
bullosa
simplex
(
EBS
)
,
muscular
dystrophy
(
MD
)
,
and
sometimes
pyloric
atresia
.
Association
of
EBS
with
a
myasthenic
syndrome
(
MyS
)
was
documented
in
a
single
patient
in
1999
.
To
analyze
the
clinical
,
structural
,
and
genetic
aspects
of
a
second
and
fatal
case
of
EBS
associated
with
a
MyS
and
search
for
the
genetic
basis
of
the
disease
in
a
previously
reported
patient
with
EBS-
MD
-MyS
.
Clinical
observations
;
histochemical
,
immunocytochemical
,
and
electron
microscopy
studies
of
skeletal
muscle
and
neuromuscular
junction
;
and
mutation
analysis
.
An
African
American
man
had
EBS
since
early
infancy
,
and
progressive
muscle
weakness
,
hyperCKemia
,
and
myasthenic
symptoms
refractory
to
therapy
since
age
3
years
.
Eventually
he
became
motionless
and
died
at
age
42
years
.
At
age
15
years
,
he
had
a
marked
EMG
decrement
,
and
a
reduced
miniature
endplate
potential
amplitude
.
The
myopathy
was
associated
with
dislocated
muscle
fiber
organelles
,
structurally
abnormal
nuclei
,
focal
plasmalemmal
defects
,
and
focal
calcium
ingress
into
muscle
fibers
.
The
neuromuscular
junctions
showed
destruction
of
the
junctional
folds
,
and
remodeling
.
Mutation
analysis
demonstrated
a
known
p
.
Arg
2319
X
and
a
novel
c
.
12043
dupG
mutation
in
PLEC
1
.
The
EBS-
MD
-MyS
patient
reported
in
1999
also
carried
c
.
12043
dupG
and
a
novel
p
.
Gln
2057
X
mutation
.
The
novel
mutations
were
absent
in
200
Caucasian
and
100
African
American
subjects
.
The
MyS
in
plectinopathy
is
attributed
to
destruction
of
the
junctional
folds
and
the
myopathy
to
defective
anchoring
of
muscle
fiber
organelles
and
defects
in
sarcolemmal
integrity
.
Diseases
Validation
Diseases presenting
"structurally abnormal nuclei"
symptom
epidermolysis bullosa simplex
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