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Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype

26 Aug 2022

Abstract excerpt

We present a now 18-year-old female patient with a severe congenital myopathy phenotype, originally diagnosed as mitochondrial myopathy, however later revealed to constitute a SCN4A-related myopathy based on genetic testing. After birth, floppiness, bradycardia and respiratory insufficiency ensued, and moderately reduced mitochondrial complex I activity was found in muscle tissue (tested at 3 weeks and 3 years of...

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Cardiomyopathy and Myosin Studies
Genomics and Rare Diseases
Mitochondrial Function and Pathology

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36090556
DOI: 10.3389/fped.2022.944784

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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