|
Muscular Dystrophies, Limb-Girdle
|
0.500 |
GeneticVariation
|
group |
BEFREE |
ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.
|
31395899 |
2019 |
|
Muscular Dystrophies, Limb-Girdle
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Recessive mutations in anoctamin-5 (ANO5) are causative for limb-girdle muscular dystrophy (LGMD) 2 L and non-dysferlin Miyoshi-like distal myopathy (MMD3).
|
31350120 |
2019 |
|
Muscular Dystrophies, Limb-Girdle
|
0.500 |
Biomarker
|
group |
BEFREE |
It has been recognized that mutations in the ANO5 gene cause many skeletal muscle diseases such as limb girdle muscular dystrophy type 2L (LGMD2L) and Miyoshi muscular dystrophy type 3 (MMD3) in human.
|
31680776 |
2019 |
|
Muscular Dystrophies, Limb-Girdle
|
0.500 |
Biomarker
|
group |
BEFREE |
ANO5-related myopathy is an important cause of limb-girdle muscular dystrophy (LGMD) and hyperCKemia.
|
31353849 |
2019 |
|
Muscular Dystrophies, Limb-Girdle
|
0.500 |
Biomarker
|
group |
BEFREE |
Limb-girdle muscular dystrophy 2L (LGMD2L) is mainly characterized by late adult onset, atrophy of proximal muscles, chronic progressive and asymmetric weakness, accompanied by increased creatine kinase (CK) levels, dystrophic pathological changes and electromyography showing myogenic damage.
|
30235762 |
2018 |
|
Muscular Dystrophies, Limb-Girdle
|
0.500 |
Biomarker
|
group |
BEFREE |
Limb-girdle muscular dystrophy type 2L (LGMD2L) is a myopathy arising from mutations in <i>ANO5</i>; however, information about the contribution of ANO5 to muscle physiology is lacking.
|
30257928 |
2018 |
|
Muscular Dystrophies, Limb-Girdle
|
0.500 |
Biomarker
|
group |
BEFREE |
Limb girdle muscular dystrophy type 2L (LGMD2L) and Miyoshi myopathy type 3 (MMD3) are autosomal recessive muscular dystrophy caused by mutations in the gene encoding anoctamin-5 (ANO5), which belongs to the anoctamin protein family.
|
29789544 |
2018 |
|
Muscular Dystrophies, Limb-Girdle
|
0.500 |
Biomarker
|
group |
BEFREE |
Limb girdle muscular dystrophy type 2L (LGMD2L) is an adult-onset slowly progressive muscular dystrophy associated with anoctamin 5 (ANO5) gene mutation, mainly reported from Northern and Central Europe.
|
28214267 |
2017 |
|
Muscular Dystrophies, Limb-Girdle
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Patients with anoctamin-5 (ANO5) mutations may present not only with limb-girdle muscular dystrophy type 2L or adult-onset Miyoshi-type myopathy but also with asymptomatic hyperCKemia, exercise intolerance, or rhabdomyolysis.
|
28187523 |
2017 |
|
Muscular Dystrophies, Limb-Girdle
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We studied 786 undiagnosed patients with LGMD or nonspecific myopathic features to investigate the role of ANO5 mutations in limb-girdle muscular dystrophies (LGMDs) and in nonspecific myopathies using the next generation sequencing (NGS) approach.
|
25891276 |
2015 |
|
Muscular Dystrophies, Limb-Girdle
|
0.500 |
GeneticVariation
|
group |
BEFREE |
A mutation in the Ano5 gene causes limb-girdle muscular dystrophy (LGMD) type 2L, the third most common LGMD in Northern and Central Europe.
|
25094048 |
2014 |
|
Muscular Dystrophies, Limb-Girdle
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Recessive mutations in the anoctamin-5 gene (ANO5) cause a spectrum of clinical phenotypes, including limb-girdle muscular dystrophy (LGMD 2L), distal myopathy, and asymptomatic hyperCKemia.
|
24889862 |
2014 |
|
Muscular Dystrophies, Limb-Girdle
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Additionally, several recessive loss-of-function alleles of TMEM16E also cause late-onset limb girdle muscular dystrophy.
|
23843187 |
2014 |
|
Muscular Dystrophies, Limb-Girdle
|
0.500 |
GeneticVariation
|
group |
BEFREE |
In this retrospective cross-sectional study clinical and muscle imaging data of patients with Miyoshi distal myopathy phenotype (MMD1 and MMD3) and limb girdle muscular dystrophy 2L (LGMD2L) were described.
|
25176504 |
2014 |
|
Muscular Dystrophies, Limb-Girdle
|
0.500 |
Biomarker
|
group |
BEFREE |
Anoctamin 5 deficiency has recently been defined to cause limb-girdle muscular dystrophy type 2L (LGMD2L) with pronounced hyperCKemia.
|
24639367 |
2014 |
|
Muscular Dystrophies, Limb-Girdle
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Novel mutations in the Anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L.
|
23169617 |
2013 |
|
Muscular Dystrophies, Limb-Girdle
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in dysferlin and anoctamin 5 are the cause of muscular disorders, with the main presentations as limb-girdle muscular dystrophy or Miyoshi type of distal myopathy.
|
23721401 |
2013 |
|
Muscular Dystrophies, Limb-Girdle
|
0.500 |
GeneticVariation
|
group |
BEFREE |
ANO5 mutations in the Dutch limb girdle muscular dystrophy population.
|
23607914 |
2013 |
|
Muscular Dystrophies, Limb-Girdle
|
0.500 |
GeneticVariation
|
group |
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 Dystrophies, Limb-Girdle
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Limb girdle muscular dystrophy type 2L or anoctaminopathy is a condition mainly characterized by adult onset proximal lower limb muscular weakness and raised CK values, due to recessive ANO5 gene mutations.
|
23606453 |
2013 |
|
Muscular Dystrophies, Limb-Girdle
|
0.500 |
GeneticVariation
|
group |
BEFREE |
All patients in our neuromuscular unit with genetically unclassified, recessive limb girdle muscular dystrophy (LGMD2), Miyoshi-type distal myopathy (MMD) or persistent asymptomatic hyperCK-emia (PACK) were assessed for mutations in the ANO5 gene.
|
23670307 |
2013 |
|
Muscular Dystrophies, Limb-Girdle
|
0.500 |
GeneticVariation
|
group |
BEFREE |
DNA samples of 101 patients in 95 kindreds at our quaternary referral center in Finland, who had undetermined limb-girdle muscular dystrophy (LGMD), calf distal myopathy, or creatine kinase (CK) elevations of more than 2,000 IU/L, were selected for ANO5 genetic evaluation, and the clinical findings of patients with mutations were retrospectively analyzed.
|
22402862 |
2012 |
|
Muscular Dystrophies, Limb-Girdle
|
0.500 |
GeneticVariation
|
group |
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 Dystrophies, Limb-Girdle
|
0.500 |
Biomarker
|
group |
BEFREE |
Limb girdle muscular dystrophy type 2L (LGMD2L) is an adult-onset slowly progressive muscular dystrophy associated with recessive mutations in the ANO5 gene.
|
22980763 |
2012 |
|
Muscular Dystrophies, Limb-Girdle
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Limb-girdle muscular dystrophy (LGMD) 2L, caused by mutations in the anoctamin 5 (ANO5) gene, is the third most common LGMD in Northern and Central Europe, where the c.191dupA mutation causes the majority of cases.
|
22742934 |
2012 |