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A random Abstract
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Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation.
[triple a syndrome]
We
report
on
the
case
of
a
25
-
year
-old
woman
with
triple
A
syndrome
and
gene
mutation
,
who
,
during
the
long
follow-up
period
of
23
years
,
developed
myoclonus
of
the
face
and
the
upper
limbs
(
with
normal
brain
magnetic
resonance
spectroscopy
)
and
widespread
digestive
dysmotility
,
involving
small
bowels
and
gall
bladder
.
These
features
,
not
previously
described
,
illustrate
an
extension
of
the
cerebral
and
digestive
neurological
involvement
in
this
syndrome
.
