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Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
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Congenital Muscular Dystrophy
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A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Bilateral Ptosis, Dysphagia, and Progresive Weakness in a Patient of French-Canadian Background
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A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
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A 30-year-old Man with Progressive Weakness and Atrophy
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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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Spinal Muscular Atrophy A Timely Review
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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A 49-Year-Old Man with Contractures, Weakness, and Cardiac Arrhythmia
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Underappreciated Statin-Induced Myopathic Weakness Causes Disability
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Muscle Pain after Exercise
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Natural History in Proximal Spinal Muscular Atrophy
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Dystrophinopathy in Isolated Cases of Myopathy in Females
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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Clinicopathologic Conference, Mycobacterium Tuberculosis Meningitis
NEJM 384:166-176, Case 1-2021, 2021
Clinicopathologic Conference, Amyotrophic Lateral Sclerosis
NEJM 380:1566-1574, Case 12-2019, 2019
Clinicopathologic Conference, Statin-Associated Autoimmune Myopathy
NEJM 381:275-283, Case 22-2019, 2019
Subacute Paresis in a 28-year-old man with HIV
Neurol 90:432-435, Harada, Y.,et al, 2018
A 42-year-old man with unilateral leg weakness
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Clinicopathologic Conference, Digitalis Toxicity
NEJM 378:1931-1938, Case 15-2018, 2018
Clinicopathologic Conference, Pulmonary Adenocarcinoma, Complicated by a Hypercoagulable State with a Nonbacterial Thrombotic Endocarditis
NEJM, Case 33-2018, 2018
Man with Recurrent Paralysis and Cerebral White Matter Lesions
JAMA Neurol 74:599-600, Xiao, F., 2017
A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
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Chronic and Slowly Progressive Weakness of the Legs and Hands
BMJ 348:g459, Nightingale, H.,et al, 2014
Motor Neurone Disease
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Clinicopathologic Conference, Cystoisospora Belli Enteritis and HIV Infection
NEJM 365:2306-2316, Case 38-2011, 2011
Chronic Inflammatory Demyelinating Polyneuropathy: Etiology, Clinical Features, and Diagnosis
UpToDate, Sept, Lewis, R., 2010
HIV Infection Presenting with Motor Axonal Variant of Guillain-Barre Syndrome
J Clin Neuromusc Dis 9:303-305, Wagner, J.C. and Bromberg, M.B., 2007
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Development of General Weakness in a Patient with Amyotrophic Lateral Sclerosis after Focal Botulinum Toxin Injection
Neurol 46:845-846, Mezaki,T.,et al, 1996
Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
Medicine 75:233-250, Murakami,T.,et al, 1996
Clinicopath Conf
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Subacute, Reversible Motor Neuron Disease
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Human Immunodeficiency Virus Assoc Myopathy:Immunocytochemical Ident of an HIV Antigen (gp41) in Muscle Macrophages
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