A 54-year-old man with Dyspnea and Muscle Weakness
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Muscular Dystrophies
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Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Glycogen-Storage Disease Type II
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Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency
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Acid Maltase Deficiency
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A 69-Year-Old Woman with Ophthalmoplegia
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Clinicopathologic Conference, Legionella Infection Complicated by Rhabdomyolysis
NEJM 391:1039-1048, Case 29-2024, 2024
The Spectrum of Neurologic Disease in the Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic Infection
JAMA Neurol 77:679-680, Pleasure, S.J.,et al, 2020
A Case of Statin-Associated Autoimmune Myopathy
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A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
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Clinicopathologic Conference, Dermatomyositis. Malignant Atrophic Papulosis (Degoss Disease), Involving the Skin and Gastrointestinal Tract
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A 46-Year-Old Woman With Severe Weakness Following Acute Respiratory Distress Syndrome
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The Phenotype of Limb-Girdle Muscular Dystrophy Type 21
Neurol 60:1246-1251,1230, Poppe,M.,et al, 2003
Acute Corticosteroid Myopathy in Intensive Care Patients
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Critical Illness Neuromuscular Disease in Children Manifested as Ventilatory Dependence
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Phosphorylase Deficiency
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A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
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Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
A 59-Year-Old Man with Progressive Proximal Weakness Since Childhood
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Covd-19-Associated Myopathy Caused by Type 1 Interferonopathy
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A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
Neurol 88:e185-e189, Vazquez do Campo, R.,et al, 2017
Clinicopathologic Conference, Infective Endocarditis and Infectious Aortitis due to Staphylococcus Aureus
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Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
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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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Inflammatory Myopathies with Anti-Ku Antibodies
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Clinicopathologic Conference,Necrotizing Noninflammatory Myopathy Consistent with Exposure to Statins
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A Case of Necrotizing Myopathy with Proximal Weakness and Cardiomayopathy
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Heterogeneity of Coenzyme Q10 Deficiency
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Redefining Dysferlinopathy Phenotypes Based on Clinical Findings and Muscle Imaging Studies
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Diagnosis and New Treatments in Muscular Dystrophies
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Rhabdomyolysis: An Evaluation of 475 Hospitalized Patients
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Clinical and Genetic Aspects of Distal Myopathies
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Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene
NEJM 342:770-780, Dalakas,M.C.,et al, 2000
Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Bent Spine Syndrome
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Multifocal Motor Neuropathy
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Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
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Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
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Cerebral Involvement in McLeod Syndrome
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Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
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Benign Familial Disease with Muscle Mounding and Rippling
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Myotonic Dystrophy
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The Nondystrophic Myotonias
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