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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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A Neonate with Micrognathia and Hypotonia
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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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Central Core Disease, Clinical Features in 13 Patients
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Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
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