Polyglucosan body myopathy 1 may cause cognitive impairment: a case report from China.
Lin ChenNan WangWenbin HuXuen YuRenming YangYongzhu HanYan YanNa NianCongbo Sha
Published in: BMC musculoskeletal disorders (2021)
This case from China with a novel homozygous missense mutation in RBCK1 extends the phenotypic spectrum and geographical distribution of PGBM 1, which may cause cerebral white matter changes and cognitive impairment.