Spinal Muscular Atrophy
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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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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Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
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Rigid Spine Syndrome and Rigid Spine Sign in Myopathies
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Diagnostic Criteria for Rett Syndrome
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Practical Problems in the Respiratory Care of Patients with Muscular Dystrophy
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Osteogenesis Imperfecta, in Heritable Disorders of Connective Tissue
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