- The
sarcoglycans are a
family of
transmembrane proteins (α, β, γ, δ or ε)
involved in the
protein complex responsible for
connecting the
muscle fibre cytoskeleton...
- in sarcoglycanopathies. In
terms of
sarcoglycan deficiency there can be
variance (if α-
sarcoglycan and γ-
sarcoglycan are not
present then there's a mutation...
- Delta-
sarcoglycan is a
protein that in
humans is
encoded by the SGCD gene. The
protein encoded by this gene is one of the four
known components of the...
- a
collection of
diseases resulting from
mutations in any of the five
sarcoglycan genes: α, β, γ, δ or ε. The five
sarcoglycanopathies are: α-sarcoglycanopathy...
-
Myoclonus dystonia is
caused by loss-of-function-mutations in the
epsilon sarcoglycan gene (SGCE). The
disease is
dominantly inherited,
however SGCE is an...
- dysferlin-related LGMD R3 α-
sarcoglycan-related LGMD R4 β-
sarcoglycan-related LGMD R5 γ-
sarcoglycan-related LGMD R6 δ-
sarcoglycan-related LGMD R7 telethonin-related...
- (DAPC). Many
muscle proteins, such as α-dystrobrevin, syncoilin, synemin,
sarcoglycan, dystroglycan, and sarcospan,
colocalize with
dystrophin at the costamere...
- Epsilon-
sarcoglycan is a
protein that in
humans is
encoded by the SGCE gene. The SGCE gene
encodes the
epsilon member of the
sarcoglycan family, transmembrane...
- Alpha-
sarcoglycan is a
protein that in
humans is
encoded by the SGCA gene. The dystrophin-glycoprotein
complex (DGC)
comprises a
group of
proteins that...
- Gamma-
sarcoglycan is a
protein that in
humans is
encoded by the SGCG gene. The α to δ-
sarcoglycans are
expressed predominantly (β) or
exclusively (α, γ...
