|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Clinical and molecular findings in a cohort of ANO5-related myopathy.
|
31353849 |
2019 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The presented data indicate that the identified ANO5 mutations contribute to the observed muscle pathology and broaden the genetic spectrum of LGMD myopathies.
|
31395899 |
2019 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
However, the molecular mechanisms of the skeletal myopathies caused by ANO5 defects are poorly understood.
|
31680776 |
2019 |
|
Myopathy
|
0.200 |
GeneticVariation
|
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 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
The pathogenic allele was a c.220C > T mutation in the anoctamin 5 (ANO5) gene.The LGMD2L family was characterized by mild chronic myopathy and bilateral gastrocnemius hypertrophy with obviously increased CK levels.
|
30235762 |
2018 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients.
|
28187523 |
2017 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
The phenotypic overlap of ANO5 myopathies with dysferlin-associated muscular dystrophies has inspired the hypothesis that ANO5, like dysferlin, may be involved in the repair of muscle membranes following injury.
|
26911675 |
2016 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
|
25891276 |
2015 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Therefore, MMD3 and LGMD2L should be considered as part of one spectrum of ANO5 related muscle disease.
|
25176504 |
2014 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Aerobic training in patients with anoctamin 5 myopathy and hyperckemia.
|
24639367 |
2014 |
|
Myopathy
|
0.200 |
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 |
|
Myopathy
|
0.200 |
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 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Patients presenting for the management of high-CK levels or overt myopathy with proven ANO5 mutations were prospectively investigated between June 2010 and March 2012 in Pitié Salpêtrière Hospital, according to a standardised protocol.
|
23041008 |
2013 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Recently mutations were identified in ANO5 causing LGMD2L and Miyoshi-like myopathy (MMD3), but could also be found in patients with hyperCKemia only.
|
23607914 |
2013 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Anoctamin 5 and dysferlin mutations can result in myopathies with similar clinical phenotype.
|
21820307 |
2012 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
We report here the first French cases of anoctamin 5 myopathy in 2 brothers presenting with a Miyoshi-like pattern.
|
22336395 |
2012 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
|
Myopathy
|
0.200 |
CausalMutation
|
group |
CLINVAR |
|
|
|