Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.
Shruthi MohanShannon McNultyCourtney ThaxtonMarwa ElnagheebEmma OwensMay FlowersTeagan NunneryAutumn SelfBrooke PalusSvetlana GorokhovaApril KennedyZhiyv NiuMridul JohariAlassane Baneye MaigaKelly MacalaladAmanda R ClauseJacques S BeckmannLucas BronickiSandra T CooperVijay S GaneshPeter B KangAkanchha KesariMonkol LekJennifer LevyLaura RufibachMarco SavareseMelissa J SpencerVolker StraubGiorgio TascaConrad C WeihlPublished in: Annals of clinical and translational neurology (2024)
The expert-reviewed assertions on the clinical validity of genes implicated in LGMDs form an invaluable resource for clinicians and molecular geneticists. We encourage the global neuromuscular community to publish case-level data that help clarify disputed or novel LGMD associations.