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In eukaryotic cells, nascent mRNA transcripts need to undergo many post-transcriptional modifications to reach the cell cytoplasm and translate into functional proteins. For a long time, transcription and pre-mRNA processing were considered two independent events that occur sequentially in the cell. However, it has now been well established that transcription and pre-mRNA processing are two simultaneous processes that are precisely regulated inside the cell.
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Novel MYL1 Intron Variant With Expanded Phenotype.

Maria Barington1, Marie Balslev-Harder1, Thomas Krag2

  • 1Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.

American Journal of Medical Genetics. Part A
|January 22, 2026
PubMed
Summary

Congenital myopathy-14 (CMYO14), a rare genetic disorder, was identified in a neonate with severe hypotonia and respiratory issues. This case highlights a novel intron variant in the MYL1 gene, expanding the known genetic causes of CMYO14.

Area of Science:

  • Genetics
  • Molecular Biology
  • Neurology

Background:

  • Congenital myopathy-14 (CMYO14) is an ultrarare autosomal recessive disorder.
Keywords:
MYL1CMYO14RNAaberrant splicingcongenital myopathy‐14intron variant

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  • It is caused by biallelic variants in the MYL1 gene, with only four patients previously reported.
  • The condition presents with severe hypotonia, respiratory insufficiency, and skeletal anomalies.