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 |
Early-onset limb-girdle muscular dystrophy-2L in a female athlete.
|
27862037 |
2017 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
|
27854218 |
2016 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
|
27854218 |
2016 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
Biomarker
|
disease |
MGD |
Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy.
|
26911675 |
2016 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rhabdomyolysis: a genetic perspective.
|
25929793 |
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 |
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 |
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 |
Clinical and genetic features of anoctaminopathy in Saudi Arabia.
|
25864073 |
2015 |
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 |
Eosinophils in hereditary and inflammatory myopathies.
|
24803842 |
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 |
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 |
ANO5-muscular dystrophy: clinical, pathological and molecular findings.
|
23663589 |
2013 |
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 |
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
|
23606453 |
2013 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
|
23606453 |
2013 |
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 |
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 |
Dilated cardiomyopathy in patients with mutations in anoctamin 5.
|
23041008 |
2013 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Muscle MRI findings in limb girdle muscular dystrophy type 2L.
|
22980763 |
2012 |
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 |
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 |