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A Young Woman with Rapidly Progressive Weakness and Paresthesia
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Spinal Muscular Atrophy
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A Teenager with Shortness of Breath and Difficulty Walking
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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Pyruvate Dehydrogenase Deficiency (PDCD)
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Huntington Disease: Clinical Features and Diagnosis
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A Floppy Child with Failure to Thrive
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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