Article

Clinical, Neurological, and Genetic Characterization of Polyglucosan Body Myopathy Type 1 (PGBM1) in a Pediatrics Patient: Expanding the Spectrum of RBCK1-Related Disorders

2026-02-27

Abstract excerpt

<title>Abstract</title> <p>Background Polyglucosan Body Myopathy Type 1 (PGBM1) is a rare autosomal recessive neuromuscular disorder caused by pathogenic variants in the RBCK1 gene. It is typically characterized by progressive myopathy, cardiomyopathy, and variable immune dysfunction. However, phenotypic variability, especially in the absence of immune abnormalities, has been increasingly recognized. This study...

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Literature Corpus work: c96deba3-75d7-5e7c-b00f-df6c282a9b92
DOI: 10.21203/rs.3.rs-8775190/v1

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