Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Muscular Dystrophies
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A 52-year-old Woman with Progressive Proximal Weakness
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The Limbic-Girdle Muscular Dystrophies
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LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
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Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
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Clinical and Genetic Aspects of Distal Myopathies
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Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
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Cardiac Dysfunction in Neuromuscular Diseases
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Mutations in the Sarcoglycan Genes in Patients with Myopathy
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Bent Spine Syndrome
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The Prevention of Neurogenetic Disease
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Myotonic Dystrophy
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Molecular Genetics in Neurology
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Clinicopath Conf
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Autosomal Recessive Distal Dystrophy
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Congenital Muscular Dystrophy
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DNA Restriction Fragment Length Polymorphisms in Diff Dx of Genetic Disease:Appl in Neuromusc Dis
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Early-Onset Benign Autosomal Dominant Limb-Girdle with Contractures (Bethlem Myopathy)
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Adult-Onset Autosomal Dominant Limb-Girdle Muscular Dystrophy
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Facioscapulohumeral Dystrophy, in Myology, Basic & Clinical
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Autosomal Recessive Distal Muscular Dystrophy:A Comparative Study with Distal Myopathy with Rimmed Vacuole Formation
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Recognising & Preventing Duchenne Muscular Dystrophy
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Quadriceps Myopathy in Two Brothers
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Systemic Membrane Defect in the Proximal Muscular Dystrophies
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Cardiac Features of Unusual X-linked Humeroperoneal Neuromuscular Disease
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Ocular Myopathy
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Diseases of Muscles-Clinical Manifestations & Differential Diagnosis
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A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
Neurol 102:e209258, Lail,G.,et al, 2024
Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
NEJM 388:2379-2387, Case 19-2023, 2023
Telemedicine in Neurology
Neurol 94:30-38,16, Hatcher-Martin, J.M.,et al, 2020
"Boule Du Biceps" in Dysferlinopathy
Neurol 94:83-84, El Sherif, R.,et al, 2020
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
Acta Myologica 37:267-271, Papa, A.A.,et al, 2018
A 30-year-old Man with Progressive Weakness and Atrophy
Neurol 87:e227-e230, Quinn, C.,et al, 2016
Mechanisms, Causes, and Effects of Hypercapnia
UptoDate Dec, Feller-Kopman, D.J. & Schwartzstein, R.M., 2016
The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
Ann Neurol 72:9-17, Mercuri, E. & Muntoni, F., 2012
Myoglobinuria and Muscle Pain are Common in Patients With Limb-Girdle Muscular Dystrophy 21
Neurol 76:194-195, Mathews,K.D.,et al, 2011
Redefining Dysferlinopathy Phenotypes Based on Clinical Findings and Muscle Imaging Studies
Neurol 75:316-323,298, Paradas,C., et al, 2010
New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
JNNP 81:946-953, Klinge,L.,et al, 2010
Diagnosis and Etiology of Congenital Muscular Dystrophy
Neurol 71:312-321,308, Peat,R.A.,et al., 2008
Cardiac Involvement in Patients With Limb-Girdle Muscular Dystrophy Type 2 and Becker Muscular Dystrophy
Arch Neurol 65:1196-1201, Sveen,M.-L.,et al., 2008
Congenital Muscular Dystrophy
eMedicine (Jan), Lopate,G., 2007
Diagnostic Evaluation of Clinically Normal Subjects with Chronic hyperCKemia
Neurol 66:1585-1587, Fernandez,C.,et al, 2006
Case 35-2006: A Newborn Boy with Hypotonia
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The Phenotype of Limb-Girdle Muscular Dystrophy Type 21
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