Condition: Osteogenesis imperfecta, Levin type
rs137854521 in
ANO5 gene and
Osteogenesis imperfecta, Levin type
PMID 21186264 2011 A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
PMID 23606453 2013 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.
PMID 21739273 2011 [Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings].
PMID 20096397 2010 Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
PMID 25891276 2015 Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
PMID 23041008 2013 Dilated cardiomyopathy in patients with mutations in anoctamin 5.
PMID 22402862 2012 Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.
PMID 23670307 2013 Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression.
PMID 22980763 2012 Muscle MRI findings in limb girdle muscular dystrophy type 2L.
PMID 25135358 2014 Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
PMID 27911336 2016 Decreased Aerobic Capacity in ANO5-Muscular Dystrophy.
PMID 24803842 2013 Eosinophils in hereditary and inflammatory myopathies.
PMID 23607914 2013 ANO5 mutations in the Dutch limb girdle muscular dystrophy population.
PMID 23530687 2013 Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy.
PMID 23663589 2013 ANO5-muscular dystrophy: clinical, pathological and molecular findings.
PMID 22499103 2012 Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.
PMID 27854218 2016 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
PMID 23047743 2013 By sequencing the entire ANO5 gene coding region and untranslated regions in a large Italian GDD family, we found a novel missense mutation causing the p.Thr513Ile substitution.
PMID 27216912 2016 Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies.
PMID 15124103 2004 The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).
PMID 22742934 2012 Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients.
PMID 22194990 2011 Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.
PMID 27862037 2017 Early-onset limb-girdle muscular dystrophy-2L in a female athlete.
PMID 26404900 2015 ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.