Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
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A Neonate with Micrognathia and Hypotonia
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The Floppy Infant: Evaluation of Hypotonia
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Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
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Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
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Trinucleotide Repeat Expansion in Neurological Disease
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Myotonic Dystrophy
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The Nondystrophic Myotonias
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Genetics and Physiology of the Myotonic Muscle Disorders
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Molecular Genetics in Neurology
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Unstable DNA Sequence in Myotonic Dystrophy
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Presymptomatic and Prenatal Diagnosis in Myotonic Dystrophy by Genetic Linkage Studies
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The Molecular Genetic Revolution, Its Impact on Clinical Neurology
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Genetic Linkage in Neurologic Diseases
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Cerebral Ventricular Dilation in Congenital Myotonic Dystrophy
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Successful Treatment with Tocainide of Recessive Generalized Congenital Myotonia
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Congenital Myotonic Dystrophy
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Abnormal Iris Vasculature in Myotonic Dystrophy
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Peripheral Neuropathy in Myotonic Dystrophy
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Cardiac Features of Unusual X-linked Humeroperoneal Neuromuscular Disease
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Epidemiology of Motor-Neuron Diseases
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Pathology of Malignant Hyperpyrexia
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Preclinical Detection of Dystrophia Myotonica
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A 52-year-old Woman with Progressive Proximal Weakness
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Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
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Imaging Patterns Characterizing Mitochondrial Leukodystrophies
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Duchenne Muscular Dystrophy
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Muscular Dystrophies
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A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
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The Limbic-Girdle Muscular Dystrophies
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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Diagnosis and New Treatments in Muscular Dystrophies
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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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Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Clinical and Genetic Aspects of Distal Myopathies
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Mutations in the Sarcoglycan Genes in Patients with Myopathy
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Brief Report:Deficiency of a Dystrophin-Assoc Glycoprotein (Adhalin) in Pt with Muscular Dystrophy & Cardiomyopathy
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Confirmation of Linkage of Oculopharyngeal Muscular Dystrophy to Chromosome 14q11. 2-q13
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The Prevention of Neurogenetic Disease
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Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
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Clinicopath Conf
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Familial Adult-Onset Muscular Dystrophy with Leukoencephalopathy
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Autosomal Recessive Distal Dystrophy
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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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