Article

<i>Caenorhabditis elegans</i> models for striated muscle disorders caused by missense variants of human <i>LMNA</i>

2023-04-09

Abstract excerpt

Striated muscle laminopathies caused by missense mutations in the nuclear lamin gene LMNA are characterized by cardiac dysfunction and often skeletal muscle defects. Attempts to predict which LMNA variants are pathogenic and to understand their physiological effects lags behind variant discovery. We created Caenorhabditis elegans models for striated muscle laminopathies by introducing pathogenic human LMNA var...

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Literature Corpus work: e2bba2ad-9e29-5aa6-b8c6-03489f4ef09c
DOI: 10.1101/2023.04.09.536174

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