Article
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement.
Journal of medical genetics - 24 Sept 2024
Johari Mridul, Topf Ana, Folland Chiara, Duff Jennifer, Dofash Lein, Marti Pilar, Robertson Thomas, Vilchez Juan, Cairns Anita, Harris Elizabeth, Marini-Bettolo Chiara, Hundallah Khalid, Alhashem Amal M, Al-Owain Mohammed, Maroofian Reza, Ravenscroft Gianina, Straub Volker
Abstract excerpt
BACKGROUND: 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 Ca2+ homeostasis can contribute to disease pathology. METHODS: We analysed exome and genome sequencing data from four unrelated...
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