Article

Biallelic variants in<i>HMGCS1</i>are a novel cause of rare rigid spine syndrome

2023-10-28

Abstract excerpt

Rigid spine syndrome is a rare childhood-onset myopathy characterised by slowly progressive or non-progressive scoliosis, neck and spine contractures, hypotonia, and respiratory insufficiency. Biallelic variants in SELENON account for most cases of rigid spine syndrome, however, the underlying genetic cause in some patients remains unexplained. In this study, we used exome and genome sequencing to investigate the...

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Literature Corpus work: ff6ec087-f23f-55b9-a04f-bf82c0bd3aed
DOI: 10.1101/2023.10.25.23297129

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