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

A subset of patients with polyglucosan body myopathy was found to have underlying mutations in the RBCK1 gene. Affected patients may display diverse symptoms ranging from skeletal muscular weakness, cardiomyopathy to chronic autoinflammation and immunodeficiency. It was suggested that the exact loca...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2017
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808061/
https://www.ncbi.nlm.nih.gov/pubmed/29260357
http://dx.doi.org/10.1007/s00415-017-8710-x

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