Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011
Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
Neuropediatrics 19:62-71, Voit,T.,et al, 1988
Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
NEJM 388:2379-2387, Case 19-2023, 2023
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
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
A 52-year-old Woman with Progressive Proximal Weakness
Neurol 83:e106-e109, Enduri, S.,et al, 2014
The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014
Electrophysiological Study with Prophylactic Pacing and Survival in Adults with Myotonic Dystrophy and Conduction System Disease
JAMA 307:1292-1301, Wahbi,K.,et al, 2012
Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy
Neurol 77:62-66, Schade van Westrum, S.M.,et al, 2011
New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
JNNP 81:946-953, Klinge,L.,et al, 2010
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
The Phenotype of Limb-Girdle Muscular Dystrophy Type 21
Neurol 60:1246-1251,1230, Poppe,M.,et al, 2003
Cardiac Dysfunction in Neuromuscular Diseases
The Neurologist 6:67-82, Pourmand,R., 2000
Signs and Symptoms of Duchenne Muscular Dystrophny and Becker Muscular Dystrophy Among Carriers in the Netherlands: A Cohort Study
Lancet 353:2116-2119, Hoogerwaard,E.M.,et al, 1999
Brief Report:Deficiency of a Dystrophin-Assoc Glycoprotein (Adhalin) in Pt with Muscular Dystrophy & Cardiomyopathy
NEJM 334:362-366, Fadic,R.,et al, 1996
Is Chronic Respiratory Failure in Neuromuscular Diseases Worth Treating
JNNP 61:1-3, Shneerson,J.M., 1996
Development of Cardiomyopathy in Female Carriers of Duchenne and Becker Muscular Dystrophies
JAMA 275:1335-1338, Politano,L.,et al, 1996
Evaluation of the Cardiomyopathy in Becker Muscular Dystrophy
Muscle & Nerve 18:283-291995., Nigro,G.,et al, 1995
Facioscapulohumeral Muscular Dystrophy in Early Childhood
Arch Neurol 51:387-394, Brouwer,O.F.,et al, 1994
Myotonic Dystrophy
In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994
Neuropathic Findings in Oculopharyngeal Muscular Dystrophy, Seven Cases & Review of Literature
Arch Neurol 50:481-488, Hardiman,O.,et al, 1993
Cardiomyopathy May Be the Only Clinical Manifestation in Female Carriers of Duchenne Muscular Dystrophy
Neurol 43:2342-2345, Mirabella,M.,et al, 1993
Sudden Death of a Carrier of X-Linked Emery-Dreifuss Muscular Dystrophy
Ann Int Med 119:900-905, Fishbein,M.C.,et al, 1993
The Heart in Myotonic Dystrophy
Editorial, Lancet 339:528-5291992., , 1992
Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
Churchhill Livingstone, NY, p285, 30392., Mastaglia,F.L.&Walton,J., 1992
Quadriceps Myopathy:Forme Fruste of Becker Muscular Dystrophy
Ann Neurol 28:634-639, Sunohara,N.,et al, 1990
Duchenne Muscular Dystrophy:Patterns of Clinical Progression and Effects of Supportive Therapy
Neurol 39:475-481, Brooke,M.H.,et al, 1989
Cardiac Transplantation in a Patient with Muscular Dystrophy and Cardiomyopathy
Arch Neurol 46:705-707, Donofrio,P.D.,et al, 1989
Left Ventricular Thrombus and Systemic Emboli Complicating the Cardiomyopathy of Duchenne's Muscular Dystrophy
Arch Neurol 46:1249-1252, Gaffney,J.F.,et al, 1989
Peripheral Neuropathy in Myotonic Dystrophy:A Nerve Biopsy Study
Ann Neurol 23:470-476, Cros,D.,et al, 1988
Facioscapulohumeral Dystrophy, in Myology, Basic & Clinical
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Facioscapulohumeral Dystrophy Presenting in Infancy with Facial Diplegia & Sensorineural Deafness
Ann Neurol 17:513-516, Korf,B.R.,et al, 1985
Abnormalities of Eyelid Closure
In Walsh & Hoyt's Clinical Neuro-ophthalmology, Williams & Wilkins, Baltimore, 2:967, Miller,M.R., 1985
Serial Two-dimensional Echocardiography in Duchenne Muscular Dystrophy
Neurol 32:1101-1105, Goldberg,S.J.,et al, 1982
An Autosomal-dominant Dystrophy with Humeropelvic Distribution & Cardiomyopathy
Neurol 32:1399-1401, Fenichel,G.M.,et al, 1982
Facioscapulohumeral Dystrophy Associated with Hearing Loss & Coats Syndrome
Ann Neurol 12:395-398, Taylor,D.A.,et al, 1982
The Facioscapulohumeral Synd, in Clinical Studies in Myology, Amsterdam, Excerpta Medica
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Ocular Myopathy
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Diseases of Muscles-Clinical Manifestations & Differential Diagnosis
The New Physic 263, 1967, Oct., Boshes,L., 1967