Associated Papers
Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy.
Vihola A et al.
Neuropathology and Applied Neurobiology, 2018
A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation-prone Ano5 peptide.
Xu J et al.
The Journal of Pathology. Clinical Research, 2018
Muscle MRI findings in limb girdle muscular dystrophy type 2L.
Sarkozy A et al.
Neuromuscular Disorders : Nmd, 2012
[Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings].
Deschauer M et al.
Der Nervenarzt, 2011
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