|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Dysferlin-deficiency due to mutations in the dysferlin gene leads to muscular dystrophy (Miyoshi myopathy (MM), limb girdle muscular dystrophy type 2B (LGMD2B), distal myopathy with anterior tibial onset (DMAT)), typically with early adult onset.
|
31019989 |
2019 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
|
27290639 |
2016 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Two endoplasmic reticulum-associated degradation (ERAD) systems for the novel variant of the mutant dysferlin: ubiquitin/proteasome ERAD(I) and autophagy/lysosome ERAD(II).
|
17331981 |
2007 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Dysferlin is absent or drastically reduced in patients with the following autosomal recessive disorders: limb-girdle muscular dystrophy type 2B (LGMD-2B), Miyoshi myopathy (MM) and distal anterior compartment myopathy.
|
14678801 |
2003 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy.
|
11468312 |
2001 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study.
|
19154541 |
2009 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
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, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.
|
17994539 |
2008 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
|
27854218 |
2016 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Ahnak1 abnormally localizes in muscular dystrophies and contributes to muscle vesicle release.
|
22057634 |
2011 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
|
25326637 |
2014 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the dysferlin gene cause limb-girdle muscular dystrophy type 2B, Miyoshi myopathy, and distal anterior compartment myopathy.
|
20082313 |
2010 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy.
|
18495154 |
2008 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy.
|
28104817 |
2017 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the dysferlin gene (DYSF) on chromosome 2p13 cause distinct phenotypes of muscular dystrophy: limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy (MM), and distal anterior compartment myopathy, which are known by the term 'dysferlinopathy'.
|
15469449 |
2004 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Dysferlinopathy in Iran: Clinical and genetic report.
|
26671124 |
2015 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
DYSF mutations lead to a wide range of muscular phenotypes, with the most prominent being Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B) and the second most common being LGMD.
|
21556485 |
2012 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Gene expression profiling in dysferlinopathies using a dedicated muscle microarray.
|
12471055 |
2002 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
On western blots of muscle, LGMD2B and MM patients show a similar abundance in dysferlin staining of 15 and 11%, respectively.
|
10196377 |
1999 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
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, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study confirms that the dysferlin gene is mutated in MM and LGMD2B and extends understanding of the timing of onset of the disease.
|
11468312 |
2001 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Dysferlin is absent or drastically reduced in patients with the following autosomal recessive disorders: limb-girdle muscular dystrophy type 2B (LGMD-2B), Miyoshi myopathy (MM) and distal anterior compartment myopathy.
|
14678801 |
2003 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.
|
9731526 |
1998 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding dysferlin cause limb girdle muscular dystrophy type 2B (LGMD2B), distal Miyoshi myopathy (MM), and a rare form of distal anterior compartment myopathy.
|
19154541 |
2009 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations.
|
11166162 |
2001 |