Glycogen-Storage Disease Type II
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Mitochondrial Respiratory-Chain Diseases
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A Clinical Study of Noonan Syndrome
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Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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Acute Arsenic Intoxication Presenting as Guillain-Barre-Like Syndrome:Donofrio
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Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
MELAS
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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
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Extension of the Clinical Spectrum of Danon Disease
Neurol 70:1358-1359, van der Kooi,A.J.,et al, 2008
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Brief Report:Deficiency of a Dystrophin-Assoc Glycoprotein (Adhalin) in Pt with Muscular Dystrophy & Cardiomyopathy
NEJM 334:362-366, Fadic,R.,et al, 1996
Age on Onset, Sex, & Cardiomyopathy as Predictors of Disability and Survival in Friedreich's Disease
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Myasthenic Symptoms in Patients with Mitochondrial Myopathies
Muscle & Nerve 18:1338-1340, LeForestier,N.,et al, 1995
Brain Magnetic Resonance Imaging & Neuropsychologic Evaluation of Patients with Idiopathic Dilated Cardiomyopathy
Stroke 22:195-199, Schmidt,R.,et al, 1991
Polymyositis, Dermatomyositis, and Inclusion-Body Myositis
NEJM 325:1487-1498, Dalakas,M.C., 1991
A Disorder of Azonal Development, Necrotizing Myopathy, Cardiomyopathy, and Cataracts:A New Familial Disease
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