Article
Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.
Journal of neurology - 1 Feb 2018
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
Abstract excerpt
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 localization of the mutation within the gene might be responsible for the specific phenotype, with N-terminal mutations...
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