Article
Anoctamin-5 Muscular Dystrophy: Report of Two Cases with Different Phenotypes and Genotypes from the Indian Subcontinent.
Neurology India - 1 Jan 2000
Mahajan Swati, Dhall Aishwarya, Jassal Bandana, Saluja Alvee, Faruq Mohammed, Suri Vaishali, Rajan Roopa, Vishnu Venugopalan Y, Sharma Mehar C
Abstract excerpt
Anoctaminopathies are a group of autosomal recessive skeletal muscle disorders with various clinical phenotypes, caused by anoctamin 5 (ANO5) gene mutations and the abnormal expression of ANO5 protein. Patients with recessive mutations in ANO5 present with variable symptoms ranging from asymptomatic hyperCKemia and exercise-induced myalgia to proximal and/or distal muscle weakness. Here, we describe the clinical,...
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