A 52-year-old Woman with Progressive Proximal Weakness
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Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
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Familial Occurrence of Neurocardiogenic Syncope
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Phosphorylase Deficiency
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Multivessel Cerebral Occlusion in Noonan Syndrome
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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A 59-Year-Old Man with Progressive Proximal Weakness Since Childhood
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A 53-year-old Woman with Lower Extremity Paresthesias
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Recurrent Cerebral Ischemia During Pregnancies
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A 54-year-old man with Dyspnea and Muscle Weakness
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A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
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A 60-year-old man with arm weakness and numbness
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Clinical Reasoning: A Teenager with Left Arm Weakness
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Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
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A Child with Delayed Motor Milestones and Ptosis
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Chronic and Slowly Progressive Weakness of the Legs and Hands
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Degenerative Diseases of the Nervous System, Friedreich Ataxia
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Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
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An unusual cause of stroke and hypoxia
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
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A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
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Association Between Familial Atrial Fibrillation and Risk of New-Onset Atrial Fibrillation
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Extension of the Clinical Spectrum of Danon Disease
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Paroxysmal Extreme Pain Disorder (Previously Familial Rectal Pain Syndrome)
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Seizures on Hearing the Alarm Clock
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
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Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
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Hypertrophic Cardiomyopathy A Systematic Review
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Is Patent Foramen Ovale a Family Trait?
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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
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Bicuspid Aortic Valve - A Silent Danger: Analysis of 50 Cases of Infective Endocarditis
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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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Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 1998
Reduced Penetrance,Variable Expressivity,and Genetic Heterogeneity of Familial Atrial Septal Defects
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Bent Spine Syndrome
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Clinical and Subclinical Neurological Involvement in Children of Conjugal Multiple Sclerosis Patients
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Phenotypic Heterogen in Hered Neurop with Liability to Press Palsies Assoc with Chromosome 17p11. 2-12 Delet
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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Familial Aorto-Cervicocephalic Arterial Dissections and Congenitally Bicuspid Aortic Valve
Stroke 26:1935-1940, Schievink,W.I.&Mokri,B., 1995
Clin Electrophy & Molec Correl in 13 Families with Hered Neurop with Liabil to Press Palsies & Chromosome 17p11. 2 Deletion
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Liver Transplantation as a Treatment for Familial Amyloidotic Polyneuropathy
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Congenital Myasthenic Syndromes
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