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Differential inclusion of<i>NEB</i>exons 143 and 144 provides insight into<i>NEB</i>-related myopathy variant interpretation and disease manifestation

2024-03-26

Abstract excerpt

Biallelic pathogenic variants in the gene encoding nebulin ( NEB ) are a known cause of congenital myopathy. We present two individuals with congenital myopathy and compound heterozygous variants (NM_001271208.2: c.2079C>A; p.(Cys693Ter) and c.21522+3A>G) in NEB. Transcriptomic sequencing on patient muscle revealed that the extended splice variant c.21522+3A>G causes exon 144 skipping. Nebulin isoforms containing...

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Identifiers and source

Literature Corpus work
8444a7c9-f95d-5957-ba98-fa2ae8807d45
DOI
10.1101/2024.03.25.24304535
Open publication

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Differential inclusion of<i>NEB</i>exons 143 and 144 provides insight into<i>NEB</i>-related myopathy variant interpretation and disease manifestationDOI 10.1101/2024.03.25.24304535
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