MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients.
|
22742934 |
2012 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
|
21186264 |
2011 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Dilated cardiomyopathy in patients with mutations in anoctamin 5.
|
23041008 |
2013 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression.
|
23670307 |
2013 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
|
26404900 |
2015 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Decreased Aerobic Capacity in ANO5-Muscular Dystrophy.
|
27911336 |
2016 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy.
|
23530687 |
2013 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
Clinical and genetic features of anoctaminopathy in Saudi Arabia.
|
25864073 |
2015 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
|
25891276 |
2015 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the anoctamin 5 gene (ANO5) have been recently identified.They cause limb girdle muscular dystrophy (LGMD2L) and Miyoshi muscular dystrophy.
|
22499103 |
2012 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.
|
22402862 |
2012 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
GeneticVariation
|
disease |
BEFREE |
We have identified recessive mutations in ANO5 that result in a proximal limb-girdle muscular dystrophy (LGMD2L) in three French Canadian families and in a distal non-dysferlin Miyoshi myopathy (MMD3) in Dutch and Finnish families.
|
20096397 |
2010 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
[Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings].
|
21739273 |
2011 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression.
|
23670307 |
2013 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the anoctamin 5 gene (ANO5) have been recently identified.They cause limb girdle muscular dystrophy (LGMD2L) and Miyoshi muscular dystrophy.
|
22499103 |
2012 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rhabdomyolysis: a genetic perspective.
|
25929793 |
2015 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
|
21186264 |
2011 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Dilated cardiomyopathy in patients with mutations in anoctamin 5.
|
23041008 |
2013 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
|
25891276 |
2015 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
We have identified recessive mutations in ANO5 that result in a proximal limb-girdle muscular dystrophy (LGMD2L) in three French Canadian families and in a distal non-dysferlin Miyoshi myopathy (MMD3) in Dutch and Finnish families.
|
20096397 |
2010 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
ANO5 mutations in the Dutch limb girdle muscular dystrophy population.
|
23607914 |
2013 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
|
25135358 |
2014 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.
|
22194990 |
2011 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Muscle MRI findings in limb girdle muscular dystrophy type 2L.
|
22980763 |
2012 |