Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
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Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
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The Nondystrophic Myotonias
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Zika Virus Associated with Microcephaly
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A Variegated Squirrel Bornavirus Associated with Fatal Human Encephalitis
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Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
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Clinical Reasoning: Encephalopathy in a 10-year-old boy
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A 23-Year-Old Man With Seizures and Visual Deficit
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Fragile X Premutation With Atypical Symptoms at Onset
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Unusual Variants of Alexander's Disease
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Prader-Willi and Angelman Syndromes
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Investigation of Muscle Disease
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Diagnostic Test for the Prader-Willi Syndrome by SNRPN Expression in Blood
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