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Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.
[epidermolysis bullosa simplex]
Epidermolysis
bullosa
associated
with
muscular
dystrophy
is
a
rare
,
autosomal
recessive
form
of
epidermolysis
bullosa
simplex
caused
by
mutations
in
the
plectin
gene
,
PLEC
1
.
We
describe
a
phenotypically
mild
case
due
to
compound
heterozygous
mutations
in
PLEC
1
(
2677
_
2685
del
and
the
novel
mutation
Q
1644
X
)
.
Clinical
features
included
mild
skin
blistering
since
birth
,
slowly
progressive
and
late-onset
upper
limb
-predominant
weakness
,
facial
weakness
,
ptosis
,
incomplete
ophthalmoplegia
,
and
paroxysmal
atrial
fibrillation
.
Diseases
Validation
Diseases presenting
"autosomal recessive form of epidermolysis bullosa simplex caused by mutations in the plectin gene"
symptom
epidermolysis bullosa simplex
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