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
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A 54-year-old man with Dyspnea and Muscle Weakness
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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
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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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The Floppy Infant: Evaluation of Hypotonia
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Extension of the Clinical Spectrum of Danon Disease
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Mitochondrial DNA Polymerase-y and Human Disease
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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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Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001
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
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Cardiac Dysfunction in Neuromuscular Diseases
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Autosomal Dominant Myofibrillar Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy Linked to Chromosome 10q
Ann Neurol 46:684-692,681, Melberg,A.,et al, 1999
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
Ann Neurol 41:117-120, Louboutin,J.P.,et al, 1997
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
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Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
Arch Neurol 52:25-31, Ricker,K.,et al, 1995
Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Cerebral Involvement in McLeod Syndrome
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Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
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Tibial Muscular Dystrophy
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Molecular Genetics in Neurology
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Diagnostic Tests for Choreoacanthocytosis
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Welander's Distal Myopathy:Clinical Neurophysiol & Muscle Biopsy Obser in Young & Middle Aged Adults with Early Symptoms
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Progressive Myopathy in Hyperkalemic Periodic Paralysis
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A Disorder of Azonal Development, Necrotizing Myopathy, Cardiomyopathy, and Cataracts:A New Familial Disease
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Ethanol and the Nervous System
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Familial X-linked Myalgia and Cramps:A Nonprogressive Myopathy Associated with a Deletion in the Dystrophin Gene
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MELAS Syndrome Involving a Mother & Two Children
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Central Core Disease, Clinical Features in 13 Patients
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Distal Myopathy, Histochemical & Ultrastructural Studies
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Quadriceps Myopathy in Two Brothers
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A Familial Mitochondrial Myopathy With Central Defect in Neural Transmission
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Nemaline (Rod) Myopathy:The Need for Histochemical Evaluation of Affected Families
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