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hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.
[inclusion body myositis]
hnRNPA
2
B
1
and
hnRNPA
1
mutations
have
been
recently
identified
by
exome
sequencing
in
three
families
presenting
with
multisystem
proteinopathy
(
MSP
)
,
a
rare
complex
phenotype
associating
frontotemporal
lobar
degeneration
(
FTLD
)
,
Paget
disease
of
bone
(
PDB
)
,
inclusion
body
myopathy
(
IBM
)
,
and
amyotrophic
lateral
sclerosis
(
ALS
)
.
No
study
has
evaluated
the
exact
frequency
of
these
genes
in
cohorts
of
MSP
or
FTD
patients
so
far
.
We
sequenced
both
genes
in
17
patients
with
MSP
phenotypes
,
and
in
60
patients
with
FTLD
and
FTLD-
ALS
to
test
whether
mutations
could
be
implicated
in
the
pathogenesis
of
these
disorders
.
No
disease-causing
mutation
was
identified
.
We
conclude
that
hnRNPA
2
B
1
and
hnRNPA
1
mutations
are
rare
in
MSP
and
FTLD
spectrum
of
diseases
,
although
further
investigations
in
larger
populations
are
needed
.
Diseases
Validation
Diseases presenting
"hnrnpa1 mutations"
symptom
inclusion body myositis
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