-
Dystrophinopathy refers to a
spectrum of
diseases due to
mutations in the DMD gene,
which encodes for the
dystrophin protein found in muscle. The severe...
- calpainopathy, dysferlinopathy,
facioscapulohumeral muscular dystrophy,
dystrophinopathy, and LMNA-****ociated myopathy.
Autoimmune -
Autoimmune disease is an...
-
progressing muscle weakness of the legs and pelvis. It is a type of
dystrophinopathy. The
cause is
mutations and
deletions in any of the 79
exons encoding...
- dystrophin,
helping to
distinguish Duchenne muscular dystrophy from
milder dystrophinopathy phenotypes. Over the past
several years, DNA
tests have been developed...
-
similarly to LGMD.
Dystrophinopathies,
including Duchenne muscular dystrophy,
Becker muscular dystrophy, and
manifesting dystrophinopathy in
female carriers...
- v t e
Muscular dystrophy Types Congenital Dystrophinopathy Becker's
Duchenne Distal Emery-Dreifuss
Facioscapulohumeral Limb–girdle
muscular dystrophy Calpainopathy...
- 2015). "Upper
extremity 3-dimensional
reachable workspace analysis in
dystrophinopathy using Kinect".
Muscle & Nerve. 52 (3): 344–55. doi:10.1002/mus.24567...
-
dystrophin protein produced by
eteplirsen may
cause a less
severe form of
dystrophinopathy, much like
Becker muscular dystrophy. Eteplirsen's
proposed mechanism...
-
Edward Clinton (December 2010). "Pseudometabolic
presentation of
dystrophinopathy due to a
missense mutation".
Muscle & Nerve. 42 (6): 975–979. doi:10...
-
Differential diagnosis Other LGMD2,
facioscapulohumeral muscular dystrophy,
dystrophinopathy,
Metabolic myopathy Management Physical therapy, bracing, orthopedic...
