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A Neonate with Micrognathia and Hypotonia
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Central Core Disease, Clinical Features in 13 Patients
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The Spectrum of Mild X-Linked Recessive Muscular Dystrophy
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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A 60-Year-Old Man with Weakness and Gait Dysfunction
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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Clinodactyly as a Key Finding in Distal Spinal Muscular Atrophy
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AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
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The Spectrum of Fragile X Disorders
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Multivessel Cerebral Occlusion in Noonan Syndrome
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 24-Year-Old Man with Spastic Ataxia and Hypodontia
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A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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Genome Sequencing in the NICU and PICU is Here to Stay
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