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Mitochondrial dysfunction in neuromuscular disorders.
[inclusion body myositis]
This
review
deciphers
aspects
of
mitochondrial
(
mt
)
dysfunction
among
nosologically
,
pathologically
,
and
genetically
diverse
diseases
of
the
skeletal
muscle
,
lower
motor
neuron
,
and
peripheral
nerve
,
which
fall
outside
the
traditional
realm
of
mt
cytopathies
.
Special
emphasis
is
given
to
well-characterized
mt
abnormalities
in
collagen
VI
myopathies
(
Ullrich
congenital
muscular
dystrophy
and
Bethlem
myopathy
)
,
megaconial
congenital
muscular
dystrophy
,
limb-girdle
muscular
dystrophy
type
2
(
calpainopathy
)
,
centronuclear
myopathies
,
core
myopathies
,
inflammatory
myopathies
,
spinal
muscular
atrophy
,
Charcot-
Marie
-
Tooth
neuropathy
type
2
,
and
drug-induced
peripheral
neuropathies
.
Among
inflammatory
myopathies
,
mt
abnormalities
are
more
prominent
in
inclusion
body
myositis
and
a
subset
of
polymyositis
with
mt
pathology
,
both
of
which
are
refractory
to
corticosteroid
treatment
.
Awareness
is
raised
about
instances
of
phenotypic
mimicry
between
cases
harboring
primary
mtDNA
depletion
,
in
the
context
of
mtDNA
depletion
syndrome
,
and
established
neuromuscular
disorders
such
as
spinal
muscular
atrophy
.
A
substantial
body
of
experimental
work
,
derived
from
animal
models
,
attests
to
a
major
role
of
mitochondria
(
mt
)
in
the
early
process
of
muscle
degeneration
.
Common
mechanisms
of
mt
-related
cell
injury
include
dysregulation
of
the
mt
permeability
transition
pore
opening
and
defective
autophagy
.
The
therapeutic
use
of
mt
permeability
transition
pore
modifiers
holds
promise
in
various
neuromuscular
disorders
,
including
muscular
dystrophies
.
Diseases
Validation
Diseases presenting
"inflammatory myopathies"
symptom
familial mediterranean fever
focal myositis
inclusion body myositis
pyomyositis
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