Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1.

Autor:	Pühringer M; Department of Paediatrics and Adolescent Medicine, Kepler University Hospital, Linz, Austria., Eisenkölbl A; Department of Paediatrics and Adolescent Medicine, Kepler University Hospital, Linz, Austria., Gröppel G; Department of Paediatrics and Adolescent Medicine, Kepler University Hospital, Linz, Austria.; Department of Neurology, Kepler University Hospital, Linz, Austria.
Jazyk:	angličtina
Zdroj:	Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2023 Nov 28; Vol. 38, pp. 101031. Date of Electronic Publication: 2023 Nov 28 (Print Publication: 2024).
DOI:	10.1016/j.ymgmr.2023.101031
Abstrakt:	Polyglucosan body myopathy-1 (PGBM1) is an extremely rare glycogen storage diseases that leads to muscle weakness and cardiomyopathy due to the accumulation of polyglucosan bodies. The clinical presentation appears to be partially dependent on the genetic mutation, but no clear genotype/phenotype correlation is currently possible. We describe a 7 year old patient, who initially presented with recurrent vomiting and respiratory infections until her first year of life. Diagnostic workup revealed an achalasia and the whole exome sequencing revealed an homozygous RBCK1 ( RANBP2-type and C3HC4-type zinc finger containing 1 ) variant (c.896_899delAGTG) located in exon 7 (mid-domain), which has also been described in 4 patients with PGBM1. The unusual presentation with gastrointestinal and respiratory symptoms before the development of progressive muscle weakness expands the phenotype of this disease. Competing Interests: The authors have no conflicts of interest to declare. All co-authors have seen and agree with the contents of the manuscript and there is no financial interest to report. We certify that the submission is original work and is not under review at any other publication. (© 2023 The Authors.)
Databáze:	MEDLINE
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