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Article

Expanding the MYOD1 Phenotype: A Case Report of a Patient Diagnosed Whilst Pregnant.

Journal of neuromuscular diseases - 1 Jan 2022

Ashton Catherine, Davis Mark, Needham Merrilee, Lamont Phillipa

Abstract excerpt

A 38-year-old pregnant woman presented at 30 weeks gestation in respiratory distress with pre-eclampsia. This was on the background of slowly progressive dyspnoea over six years, with generalised weakness and previous surgery for ptosis and prognathia. After successful caesarean delivery at 31 weeks, the patient was found to have a homozygous likely pathogenic variant in the MYOD1 gene. This case presents a...

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Identifiers

PMID: 35754284
DOI: 10.3233/JND-210782

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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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