Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Proximal Myotonic Myopathy with MRI White Matter Abnormalities of the Brain
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A 42-year-old man with unilateral leg weakness
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Spinal Muscular Atrophy
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Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
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A Child with Delayed Motor Milestones and Ptosis
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
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A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
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A 52-year-old Woman with Progressive Proximal Weakness
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Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
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Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
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The Limbic-Girdle Muscular Dystrophies
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Redefining Dysferlinopathy Phenotypes Based on Clinical Findings and Muscle Imaging Studies
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New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
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Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
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Thyrotoxic Periodic Paralysis in the US, Report of 7 Cases & Review of the Literature
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Familial Inclusion Body Myositis:Evidence for Autosomal Dominant Inheritance
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Early-Onset Benign Autosomal Dominant Limb-Girdle with Contractures (Bethlem Myopathy)
Neurol 38:573-580, Mohire,M.D.,et al, 1988
Central Core Disease, Clinical Features in 13 Patients
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Familial Neuromuscular Disease with Type 1 Fiber Hypoplasia, Tubular Aggregates, Cardiomyopathy, & Myasthenic Features
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Muscle Fiber-Type Disproportion
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Diseases of Muscles-Clinical Manifestations & Differential Diagnosis
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