Myotonic dystrophy type 1 presenting with stroke-like episodes: a case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Biochemistry, Genetics and Molecular Biology,General Medicine
Link
http://link.springer.com/content/pdf/10.1186/1756-0500-6-243.pdf
Reference10 articles.
1. Suominen T, Bachinski LL, Auvinen S, Hackman P, Baggerly KA, Angelini C, Peltonen L, Krahe R, Udd B: Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. Eur J Hum Genet. 2011, 19: 776-782.
2. Haper PS: Myotonic dystrophy – the clinical picture. Myotonic dystrophy. 2001, London: WB Saunders, 17-46. 3
3. Kassubek J, Juengling FD, Hoffmann S, Rosenbohm A, Kurt A, Jurkat-Rott K, Steinbach P, Wolf M, Ludolph AC, Lehmann-Horn F, Lerche H, Weber YG: Quantification of brain atrophy in patients with myotonic dystrophy and proximal myotonic myopathy: a controlled 3-dimensional magnetic resonance imaging study. Neurosci Lett. 2003, 348: 73-76.
4. Kornblum C, Reul J, Kress W, Grothe C, Amanatidis N, Klockgether T, Schröder R: Cranial magnetic resonance imaging in genetically proven myotonic dystrophy type 1 and 2. J Neurol. 2004, 251: 710-714.
5. Minnerop M, Weber B, Schoene-Bake JC, Roeske S, Mirbach S, Anspach C, Schneider-Gold C, Betz RC, Helmstaedter C, Tittgemeyer M, Klockgether T, Kornblum C: The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease. Brain. 2011, 134: 3530-3546.
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1. Primary amenorrhea in myotonic dystrophy type 1: Initial presentation versus incidental finding on whole genome sequencing;American Journal of Medical Genetics Part A;2024-05-06
2. Ischemic Stroke with Antiphospholipid Syndrome in a Myotonic Dystrophy Type 1 Patient: A Rare Case Report;Journal of Electrodiagnosis and Neuromuscular Diseases;2022-12-31
3. Endocrine Dysfunction in Patients With Myotonic Dystrophy;The Journal of Clinical Endocrinology & Metabolism;2021-06-14
4. Imaging in Myotonic Dystrophy Type 1 – Case Reports;Journal of the Belgian Society of Radiology;2016-10-10
5. Myotone Dystrophien: Klinik, Pathogenese, Diagnostik und Therapie;Fortschritte der Neurologie · Psychiatrie;2015-01-20
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