|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement.
|
25821721 |
2019 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Dysferlin myopathy is an autosomal recessive hereditary muscular dystrophy due to deficiency of dysferlin caused by alteration of the DYSF gene; Limb-girdle muscular dystrophy type 2B (LGMD2B) is the most common in Its clinical phenotypes.
|
29794729 |
2018 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Mutations of the DYSF gene leading to reduced dysferlin protein level causes limb girdle muscular dystrophy type 2B (LGMD2B).
|
30166241 |
2018 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
|
30564623 |
2018 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.
|
27363342 |
2017 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing.
|
28403181 |
2017 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here, we tested whether rhMG53 protein can improve membrane repair in a dysferlin-deficient mouse model of LGMD2B (B6.129-Dysf<sup>tm1Kcam</sup>/J).
|
28750735 |
2017 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing.
|
28403181 |
2017 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
Biomarker
|
disease |
BEFREE |
We report the following 2 subtypes of progressive limb-girdle dystrophy type 2B: limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi.
|
28502335 |
2017 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Respiratory and cardiac function in japanese patients with dysferlinopathy.
|
26088049 |
2016 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Pathogenic mutation R959W alters recognition dynamics of dysferlin inner DysF domain.
|
26806107 |
2016 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience.
|
26060040 |
2016 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Toward an objective measure of functional disability in dysferlinopathy.
|
25900324 |
2016 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Dysferlin mutations and mitochondrial dysfunction.
|
27666772 |
2016 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The Clinical Outcome Study for dysferlinopathy: An international multicenter study.
|
27602406 |
2016 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Dysferlin mutations and mitochondrial dysfunction.
|
27666772 |
2016 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Respiratory and cardiac function in japanese patients with dysferlinopathy.
|
26088049 |
2016 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.
|
27647186 |
2016 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
Biomarker
|
disease |
BEFREE |
Dysferlin-deficient limb girdle muscular dystrophy type 2B, distal Miyoshi myopathy, and other less frequent phenotypes are a group of recessive disorders called dysferlinopathies.
|
27501525 |
2016 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience.
|
26060040 |
2016 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes.
|
27229680 |
2016 |