Article
A synonymous codon variant altering splicing of RBCK1 expands the phenotype and genotype spectra of polyglucosan body myopathy 1.
Clinical genetics - 1 Sept 2023
Wen Qi, Zhu Wenjia, Wen Xinmei, Zhang Shu, Sun Yanan, Li Yun, Wang Jingsi, Wang Yaye, Duo Jianying, Huang Yue, Lu Yan, Di Li, Xu Min, Wang Min, Chen Hai, Da Yuwei
Abstract excerpt
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 heart failure with or without immune system dysregulation. So far, only 24 patients have been reported, all of whom exhibited symptoms before adulthood. Here, we reported...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.