-
codon rather than as a stop signal.
Pathogenic Mutations in SEPN1 gene (
SELENON) can
cause the
classical phenotype of
multiminicore disease and congenital...
-
Mutations in
Selenoprotein N (
SELENON,
formerly SEPN1) in
humans cause a
subtype of
congenital muscular dystrophy known as
SELENON-related myopathy.
Human selenoproteins...
-
Xtend Edition on Steam". Valve.
April 27, 2016.
Retrieved April 28, 2016. "
Selenon Rising on Steam". Valve.
April 29, 2016.
Retrieved May 13, 2016. "Resette's...
-
myopathy is a
congenital myopathy usually caused by
mutations in
either the
SELENON and RYR1 genes. It is
characterised the
presence of multifocal, well-cir****scribed...
- 14492
SELENOK HGNC:30394 Q9Y6D0 14493
SELENOM HGNC:30397 Q8WWX9 14494
SELENON HGNC:15999 Q9NZV5 14495
SELENOO HGNC:30395 Q9BVL4 14496
SELENOP HGNC:10751...
-
including Ullrich congenital muscular dystrophy and
Bethlem myopathy.
SELENON-related
myopathy and
arthrogryposis multiplex congenita also
cause congenital...
- unclear,
there is an ****ociation with
mutations in the
genes TPM3, ACTA1 and
SELENON. It is a rare condition.
Congenital fiber-type
disproportion can cause...
- (RSMD1), or
rigid spine syndrome,
which is
caused by
mutations in the
SELENON gene
encoding for
selenoprotein N. The
exact function of selenoprotein...
- (January 2024). "Respiratory
function in LAMA2-related
muscular dystrophy and
SELENON-related
congenital myopathy, a 1.5-year
natural history study". European...
- limb-girdle, type IC; 607801; CAV3
Muscular dystrophy,
rigid spine, 1; 602771;
SELENON Myasthenia, limb-girdle, familial; 254300; AGRN Myasthenia, limb-girdle...
