Article

Loss-of-function variants in<i>JPH1</i>cause congenital myopathy with prominent facial involvement

2024-02-11

Abstract excerpt

<h4>Background</h4> Weakness of facial, ocular, and axial muscles is a common clinical presentation in congenital myopathies caused by pathogenic variants in genes encoding triad proteins. Abnormalities in triad structure and function resulting in disturbed excitation-contraction coupling and Ca 2+ homeostasis can contribute to disease pathology. <h4>Methods</h4> We analysed exome and genome sequencing data from t...

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Literature Corpus work: 37efceb6-6483-5918-9028-77ab48fa54b2
DOI: 10.1101/2024.02.10.24302480

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