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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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Redefining Dysferlinopathy Phenotypes Based on Clinical Findings and Muscle Imaging Studies
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New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
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Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene
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The Muscular Dystrophies
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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