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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Phosphorylase Deficiency
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
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Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
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Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
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Duchenne Muscular Dystrophy
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
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Red Papules on the Tongue of a Patient with Hemiparesis
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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Diagnosis and New Treatments in Muscular Dystrophies
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The Hot Cross Bun Sign in the Patients with Spinocerebellar Ataxia
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Glycogen-Storage Disease Type II
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Autosomal Dominant Acute Necrotizing Encephalopathy
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Clinical and Genetic Aspects of Distal Myopathies
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Cerebral Involvement in McLeod Syndrome
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