Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Persistent Respiratory Failure Following Cardiac Arrest
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A Neonate with Micrognathia and Hypotonia
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Cancer Risk Among Patients with Myotonic Muscular Dystrophy
JAMA 306:2480-2486, Gadalla, S.M.,et al, 2011
New Nomenclature and DNA Testing Guidelines for Myotonic Dystrophy Type 1 (DM1)
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Proton Spectroscopy in Myotonic Dystrophy, Correlations with CTG Repeats
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Myotonic Dystrophy, The Role of Large Triplet Repeat Length in the Develop of Mental Retardation
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Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
Arch Neurol 52:25-31, Ricker,K.,et al, 1995
Cardiac Involvement in a Large Kindred with Myotonic Dystrophy:Quant Assess & Relation to Size of CTG Repeat Expansion
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Proximal Myotonic Myopathy Syndrome in the Absence of Trinucleotide Repeat Expansions
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Myotonic Dystrophy with No Trinucleotide Repeat Expansion
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Trinucleotide Repeat Expansion in Neurological Disease
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Myotonic Dystrophy
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Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker
NEJM 328:471-475, Shelbourne,P.,et al, 1993
Molecular Genetics in Neurology
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The Polymerase Chain Reaction:Application to Nervous System Disease
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Presymptomatic and Prenatal Diagnosis in Myotonic Dystrophy by Genetic Linkage Studies
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Criteria for Establishing the Validity of Genetic Recombination in Myotonic Dystrophy
Neurol 39:420-421, Griggs,R.C.,et al, 1989
The Molecular Genetic Revolution, Its Impact on Clinical Neurology
Arch Neurol 45:1366-1376, Payne,C.S.&Roses,A.D., 1988
Genetic Linkage in Neurologic Diseases
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Cerebral Ventricular Dilation in Congenital Myotonic Dystrophy
J Pediatr 111:372-376, Regev,R.,et al, 1987