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A synonymous codon variant altering splicing of RBCK1 expands the phenotype and genotype spectra of polyglucosan body myopathy 1

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收录情况： ◇ SCIE

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机构： [1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.

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关键词： polyglucosan RBCK1 splicing synonymous variant

摘要：

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 the first case of an adult-onset PGBM1 patient with a novel compound heterozygous RBCK1 gene mutation consisting of a nonsense and synonymous variant affecting splicing.© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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出版当年[2022]版：

大类 | 2 区医学

小类 | 2 区遗传学

最新[2023]版：

大类 | 3 区医学

小类 | 3 区遗传学

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出版当年[2021]版：

Q2 GENETICS & HEREDITY

最新[2023]版：

Q2 GENETICS & HEREDITY

影响因子： 2.9 最新[2023版] 3.5 最新五年平均 4.296 出版当年[2021版] 4.423 出版当年五年平均 4.438 出版前一年[2020版] 3.5 出版后一年[2022版]

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第一作者机构： [1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.

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通讯机构： [1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China. [*1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.

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