Rare Diseases Symptoms Automatic Extraction
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Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia.
[epidermolysis bullosa simplex]
Epidermolysis
bullosa
simplex
with
muscular
dystrophy
(
EBS-
MD
;
OMIM
226670
)
is
an
autosomal
recessive
form
of
EBS
,
characterized
by
skin
blistering
at
birth
and
delayed
onset
of
muscle
dystrophy
.
Mutations
in
PLEC
,
the
gene
encoding
plectin
,
have
been
identified
to
be
causal
for
EBS-
MD
.
We
report
a
case
of
EBS-
MD
with
diffuse
alopecia
.
Genetic
study
revealed
the
patient
carrying
compound
heterozygous
mutations
in
PLEC
despite
the
consanguineous
parentage
.
Diseases
Validation
Diseases presenting
"muscular dystrophy"
symptom
achondroplasia
adrenomyeloneuropathy
alpha-thalassemia
coats disease
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
focal myositis
inclusion body myositis
This symptom has already been validated