Homozygous or compound heterozygous pathogenic variants of the RBCK1 gene can result
in a systemic disorder characterized by the accumulation of complex carbohydrate …

Objective To analyze the clinical and genetic characteristics of a patient with Polyglucosan
body myopathy 1 (PGBM1) caused by a novel compound heterozygous variant in the …

Polyglucosan body myopathy type 1 (PGBM1, OMIM# 615895.) is a rare autosomal
recessive disorder caused by RBCK1 mutations. The patients displayed polyglucosan …

Abstract Polyglucosan body myopathy-1 (PGBM1) is an extremely rare glycogen storage
diseases that leads to muscle weakness and cardiomyopathy due to the accumulation of …

In this article, we report four new patients, from three kindreds, with pathogenic variants in
RBCK1 and a multisystem disorder characterised by widespread polyglucosan storage. We …

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 …

Abstract Polyglucosan body myopathy-1 (PGBM1) is an extremely rare glycogen storage
diseases that leads to muscle weakness and cardiomyopathy due to the accumulation of …

Background Polyglucosan body myopathy 1 (PGBM1) is a type of glycogen storage disease
that can cause skeletal muscle myopathy and cardiomyopathy with or without …

Glycogen storage diseases are important causes of myopathy and cardiomyopathy. We
describe 10 patients from 8 families with childhood or juvenile onset of myopathy, 8 of whom …

Aims Several neurodegenerative and neuromuscular disorders are characterised by storage
of polyglucosan, consisting of proteins and amylopectin‐like polysaccharides, which are …