A synonymous codon variant altering splicing of RBCK1 expands the phenotype and genotype spectra of polyglucosan body myopathy 1.
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DOI: 10.1111/cge.14350
Abstract: Polyglucosan body myopathy type 1 (PGBM1, OMIM #615895.) is a rare autosomal recessive disorder caused by RBCK1 mutations. The patients displayed polyglucosan accumulation in skeletal and cardiac muscles, giving rise to loss of ambulation and… read more here.
Keywords: codon variant; synonymous codon; polyglucosan body; body myopathy ... See more keywords