Natural history of skeletal muscle involvement in myotonic dystrophy type 1: a retrospective study in 204 cases
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
http://link.springer.com/content/pdf/10.1007/s00415-014-7570-x.pdf
Reference41 articles.
1. Andersen G, Ørngreen MC, Preisler N et al (2013) Muscle phenotype in patients with myotonic dystrophy type 1. Muscle Nerve 47:409–415
2. Antonini G, Giubilei F, Mammarella A et al (2000) Natural history of cardiac involvement in myotonic dystrophy: correlation with CTG repeats. Neurology 55:1207–1209
3. Arsenault ME, Prévost C, Lescault A, Laberge C, Puymirat J, Mathieu J (2006) Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions. Neurology 25:1248–1250
4. Birouk N, Gouider R, Le Guern E et al (1997) Charcot-Marie-tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain 120:813–823
5. Brook JD, McCurrach ME, Harley HG et al (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68:799–808
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