Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum-Reference-Cited by-同舟云学术

Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum

Published:2017-12-19 Issue:2 Volume:265 Page:394-401
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Krenn Martin,Salzer Elisabeth,Simonitsch-Klupp Ingrid,Rath Jakob,Wagner Matias,Haack Tobias B.,Strom Tim M.,Schänzer Anne,Kilimann Manfred W.,Schmidt Ralf L. J.,Schmetterer Klaus G.,Zimprich Alexander,Boztug Kaan,Hahn Andreas,Zimprich Fritz

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/article/10.1007/s00415-017-8710-x/fulltext.html

Reference18 articles.

1. Hedberg-Oldfors C, Oldfors A (2015) Polyglucosan storage myopathies. Mol Asp Med 46:85–100

2. Dimauro S, Akman O, Hays AP (2007) Disorders of carbohydrate metabolism. Handb Clin Neurol 86:167–182

3. Arad M, Maron BJ, Gorham JM, Johnson WH Jr, Saul JP, Perez-Atayde AR, Spirito P, Wright GB, Kanter RJ, Seidman CE, Seidman JG (2005) Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med 352:362–372

4. Nilsson J, Schoser B, Laforet P, Kalev O, Lindberg C, Romero NB, Davila Lopez M, Akman HO, Wahbi K, Iglseder S et al (2013) Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1. Ann Neurol 74:914–919

5. Wang K, Kim C, Bradfield J, Guo Y, Toskala E, Otieno FG, Hou C, Thomas K, Cardinale C, Lyon GJ et al (2013) Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement. Genome Med 5:67

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