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A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
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Mitochondrial DNA Polymerase-y and Human Disease
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Clinical and Genetic Aspects of Distal Myopathies
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Neurologic Aspects of Inflammatory Bowel Disease
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Molecular Genetics in Neurology
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Diagnostic Tests for Choreoacanthocytosis
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HTLV-I Polymyositis in a Patient Also Infected with the Human Immunodeficiency Virus
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Extrapulmonary Manifestations of Sarcoidosis
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Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
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A 59-Year-Old Man with Progressive Proximal Weakness Since Childhood
Neurol 97:958-963, Davalos, L.,et al, 2021
Telemedicine in Neurology
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A 40-Year-Old Woman Presenting with Distal Leg Weakness
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A 54-year-old man with Dyspnea and Muscle Weakness
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Neuromuscular Adverse Events Associated with Anti-PD-1 Monoclonal Antibodies
Neurol 92:663-674, Johansen, A.,et al, 2019
Progressive Proximal Weakness in a 56-year-old Man with Bone Pain
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Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
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A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
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A 51-year-old Woman with Weakness and Stiff Neck
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ICU-Acquired Weakness and Recovery from Critical Illness
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Dyspnea as a Presenting Manifestation of Amyloid Myopathy
Neurol 81:e184, Ghosh, P.S.,et al, 2013
Clinicopathologic Conference,Necrotizing Noninflammatory Myopathy Consistent with Exposure to Statins
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The Floppy Infant: Evaluation of Hypotonia
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Extension of the Clinical Spectrum of Danon Disease
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Juvenile Dermatomyositis and Other Idiopathic Inflammatory Myopathies of Childhood
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A 46-Year-Old Woman With Severe Weakness Following Acute Respiratory Distress Syndrome
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Diagnostic Evaluation of Clinically Normal Subjects with Chronic hyperCKemia
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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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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Polymyositis and Dermatomyositis
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Clinicopath Conf., Colchicine Myoneuropathy
NEJM 349:1656-1663, Case 33-2003, 2003
A Novel, Blood-Based Diagnostic Assay for Limb Girdle Muscular Dystrophy 2B and Miyoshi Myopathy
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A Forearm Exercise Screening Test for Mitochondrial Myopathy
Neurol 58:1533-1538, Jensen,T.D.,et al, 2002
Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
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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
Cardiac Dysfunction in Neuromuscular Diseases
The Neurologist 6:67-82, Pourmand,R., 2000
Critical Illness Myopathy
Muscle Nerve 23:1785-1788, Lacomis,D.,et al, 2000
Weak at the Knees
Lancet 354:1696, Webster,G.&Beynon,H., 1999
Autosomal Dominant Myofibrillar Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy Linked to Chromosome 10q
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Proximal Myotonic Myopathy with MRI White Matter Abnormalities of the Brain
Neurol 48:33-37, Hund,E.,et al, 1997
X-Linked Vacuolated Myopathy:Membrane Attack Complex Depos on Muscle Fiber Membr with Calcium Accumul on Sarcolemma
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Various Types of Hereditary Inclusion Body Myopathies Map to Chromosome 9p1-q1
Ann Neurol 41:548-551, Argov,Z.,et al, 1997
Gene Locus for Autosomal Recessive Distal Myopathy with Rimmed Vacuoles Maps to Chromosome 9
Ann Neurol 41:432-437, Ikeuchi,T.,et al, 1997
Bent Spine Syndrome
JNNP 60:51-54, Serratrice,G.,et al, 1996
Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
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