Novel mutations in the anoctamin 5 gene (ANO5 ) associated with limb-girdle muscular dystrophy 2L
Author:
Publisher
Wiley
Subject
Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.23542/fullpdf
Reference10 articles.
1. A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12;Jarry;Brain,2007
2. A new distal myopathy with mutation in anoctamin 5;Mahjneh;Neuromuscul Disord,2010
3. A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy;Hicks;Brain,2011
4. Muscular dystrophy due to mutations in anoctamin 5: Clinical and molecular genetic findings;Deschauer;Nervenarzt,2011
5. 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
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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. Loss of zebrafishdcst2expression is not associated with muscle abnormalities;2023-08-03
4. Muscle MRI patterns for limb girdle muscle dystrophies: systematic review;Journal of Neurology;2023-05-02
5. Anoctamin 5 (ANO5) Muscle Disorders: A Narrative Review;Genes;2022-09-27
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