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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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Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
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Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
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Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
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Muscle-Eye-Brain Disease:A Neuropathological Study
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Early-Onset Respiratory Failure Caused by Severe Congenital Neuromuscular Disease
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Infant Botulism:A Review of 12 Years'Experience at the Children; s Hosp of Phila
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A Disorder of Azonal Development, Necrotizing Myopathy, Cardiomyopathy, and Cataracts:A New Familial Disease
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Central Core Disease, Clinical Features in 13 Patients
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The Neuropathy of Acute Intermittent Porphyria
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