|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
LVhMyoD transduced cells readily formed striated, multinucleate myotubes expressing a wide range of genes associated with muscular dystrophy (dystrophin, dysferlin, sarcoglycans, caveolin-3) and congenital myopathy (nebulin, actin, desmin, tropomyosin, troponin).
|
17303423 |
2007 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features.
|
10825360 |
2000 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in dysferlin, the first protein linked with the cell membrane repair mechanism, causes a group of muscular dystrophies called dysferlinopathies.
|
24438169 |
2014 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recently, it was reported that a mutation in the dysferlin gene and/or dysferlin deficiency causes proximal and distal forms of muscular dystrophy, which are known by the term dysferlinopathy.
|
20667157 |
2010 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the DYSF gene cause clinically distinct forms of muscular dystrophies.
|
31218594 |
2019 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the dysferlin (DYSF) gene cause 3 different phenotypes of muscular dystrophies: Miyoshi myopathy, limb-girdle muscular dystrophy type 2B, and distal anterior compartment myopathy.
|
16087766 |
2005 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recessive loss-of-function mutations in dysferlin lead to muscular dystrophies, for which no treatment is currently available.
|
22736764 |
2012 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To describe the phenotypic spectrum of dysferlin (DYSF) gene mutations (which cause dysferlinopathies, autosomal recessive muscular dystrophies) in patients with a dysferlin protein deficiency.
|
17698709 |
2007 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recessive mutations in ANO5 cause primary skeletal muscle disorders (limb-girdle muscular dystrophy 2L and distal muscular dystrophy), which are phenotypically similar to dysferlinopathy, a muscular dystrophy due to dysferlin-encoding gene (DYSF) mutations.
|
23663589 |
2013 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the skeletal muscle gene dysferlin cause two autosomal recessive forms of muscular dystrophy: Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B).
|
11468312 |
2001 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Membrane Stabilization by Modified Steroid Offers a Potential Therapy for Muscular Dystrophy Due to Dysferlin Deficit.
|
30166241 |
2018 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in dysferlin gene cause several types of muscular dystrophy in humans, including the limb-girdle muscular dystrophy type 2B and the distal muscular dystrophy of Miyoshi.
|
16302276 |
2006 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the dysferlin gene cause two autosomal recessive forms of muscular dystrophy: Miyoshi myopathy and limb-girdle muscular dystrophy type 2B.
|
16023782 |
2006 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in dysferlin cause an inherited muscular dystrophy because of defective membrane repair.
|
21412170 |
2011 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Dysferlin is mutated in a group of muscular dystrophies commonly referred to as dysferlinopathies.
|
23558685 |
2013 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.
|
21522182 |
2011 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.
|
16705711 |
2006 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the dysferlin gene are involved in two autosomal recessive muscular dystrophies: Miyoshi myopathy and limb-girdle muscular dystrophy type 2B.
|
24028392 |
2013 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
YACs selected from our contig will be the starting point for the cloning of the LGMD2B gene and thereby establish the biological basis for this form of muscular dystrophy and its relationship with the other limb-girdle muscular dystrophies.
|
8617508 |
1996 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in dysferlin cause a type of muscular dystrophy known as dysferlinopathy.
|
16608842 |
2006 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the dysferlin gene are linked to a group of muscular dystrophies known as dysferlinopathies.
|
27349407 |
2016 |
|
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Dysferlin-deficient muscular dystrophy features amyloidosis.
|
18306167 |
2008 |
|
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
MGD |
Here we show that dysferlin-null mice maintain a functional dystrophin-glycoprotein complex but nevertheless develop a progressive muscular dystrophy.
|
12736685 |
2003 |
|
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
MGD |
Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B.
|
10508505 |
1999 |