A novel variant of RBCK1 gene causes mild polyglucosan myopathy.
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DOI: 10.17712/nsj.2022.1.20210681
Abstract: Homozygous or compound heterozygous pathogenic variants of the RBCK1 gene can result in a systemic disorder characterized by the accumulation of complex carbohydrate molecules, namely polyglucosan bodies in the muscular tissues. The role of this… read more here.
Keywords: gene causes; gene; novel variant; variant rbck1 ... See more keywords