Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and miyoshi type of muscular dystrophy
Author:
Publisher
Wiley
Subject
Physiology (medical),Cellular and Molecular Neuroscience,Clinical Neurology,Physiology
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3. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy;Liu;Nat Genet,1998
4. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies;Bolduc;Am J Hum Genet,2010
5. [Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings.];Deschauer;Nervenarzt,2011
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2. Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review;Journal of Clinical Neuromuscular Disease;2023-12
3. Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort;Brain;2023-03-13
4. Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review;Journal of Neuromuscular Diseases;2022-07-01
5. Novel Variants of ANO5 in Two Patients With Limb Girdle Muscular Dystrophy: Case Report;Frontiers in Neurology;2022-04-08
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