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Article

Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation.

HGG advances - 9 Jan 2025

Silverstein Sarah, Orbach Rotem, Syeda Safoora, Foley A Reghan, Gorokhova Svetlana, Meilleur Katherine G, Leach Meganne E, Uapinyoying Prech, Chao Katherine R, Donkervoort Sandra, Bönnemann Carsten G

Abstract excerpt

Biallelic pathogenic variants in the gene encoding nebulin (NEB) are a known cause of congenital myopathy. We present two brothers with congenital myopathy and compound heterozygous variants (NC_000002.12:g.151692086G>T; NM_001271208.2: c.2079C>A; p.(Cys693Ter) and NC_000002.12:g.151533439T>C; NM_001271208.2:c.21522+3A>G) in NEB. Transcriptomic sequencing on affected individual muscles revealed that the extended...

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Source

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Identifiers

PMID: 39318092
DOI: 10.1016/j.xhgg.2024.100354
PMCID: PMC11525221

Genes

NEB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation.PMID 39318092Read ↗

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