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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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More Than a Little Unsteady
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Complex Ataxia
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A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
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A 14-Year-Old Girl with Headache, Seizures, and Confusion
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A 60-year-old man with arm weakness and numbness
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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A 42-year-old man with unilateral leg weakness
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A Child with Delayed Motor Milestones and Ptosis
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Chronic and Slowly Progressive Weakness of the Legs and Hands
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A 52-year-old Woman with Progressive Proximal Weakness
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Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
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An unusual cause of stroke and hypoxia
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
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Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
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Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
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Hereditary Hemorrhagic Telangiectasia
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Familial Inclusion Body Myositis:Evidence for Autosomal Dominant Inheritance
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Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
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Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
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