- The five
sarcoglycanopathies are: α-
sarcoglycanopathy, LGMD2D; β-
sarcoglycanopathy, LGMD2E; γ-
sarcoglycanopathy, LGMD2C; δ-
sarcoglycanopathy, LGMD2F and...
-
dystrophin tests can
indicate a
decrease in
dystrophin detected in
sarcoglycanopathies. In
terms of
sarcoglycan deficiency there can be
variance (if α-sarcoglycan...
- γ-, α-, β- and δ-
sarcoglycanopathy by the
European Medicines Agency in
October 2011. A
patent for the
treatment of
sarcoglycanopathies is held by Genethon...
-
disorders caused by the
mutations of the
sarcoglycans are
called sarcoglycanopathies.
Mutations in the α, β, γ or δ
genes (not ε)
encoding these proteins...
-
deficiency Alpha-L-iduronidase
deficiency Alpha-mannosidosis Alpha-
sarcoglycanopathy Alpha-thal****emia
Alpha thal****emia
abnormal morphogenesis Alpha-thal****emia...
- acid
transaminase deficiency Gamma-cystathionase
deficiency Gamma-
sarcoglycanopathy Gamstorp episodic adynamy Ganglioglioma Gangliosidosis Gangliosidosis...
-
syndrome Delta-1-pyrroline-5-carboxylate
dehydrogenase deficiency Delta-
sarcoglycanopathy Dementia Dementia,
alcohol Dementia progressive lipomembranous polycysta...
-
deficiency Beta-galactosidase-1
deficiency Beta-mannosidosis Beta-
sarcoglycanopathy Beta-thal****emia
Bethlem myopathy Bhaskar Jagannathan syndrome Bickel...
- (July 2008). "Aquaporin-4
expression is
severely reduced in
human sarcoglycanopathies and dysferlinopathies". Cell Cycle. 7 (14): 2199–207. doi:10.4161/cc...
- ISBN 978-0-12-088488-9.
Kirschner J, Lochmüller H (2011-01-01). "
Sarcoglycanopathies". In
Griggs RC,
Amato AA (eds.).
Muscular Dystrophies.
Handbook of...
