Associated Papers
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
de Bruyn A et al.
Brain : a Journal of Neurology, 2023
Muscle biopsy and MRI findings in ANO5-related myopathy.
Holm-Yildiz S et al.
Muscle & Nerve, 2021
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
Zaganas I et al.
Molecular Genetics and Metabolism Reports, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
Savarese M et al.
Neuromuscular Disorders : Nmd, 2015
Dilated cardiomyopathy in patients with mutations in anoctamin 5.
Wahbi K et al.
International Journal of Cardiology, 2013
Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression.
Witting N et al.
Journal of Neurology, 2013
Muscle MRI findings in limb girdle muscular dystrophy type 2L.
Sarkozy A et al.
Neuromuscular Disorders : Nmd, 2012
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