Article
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.
American journal of medical genetics. Part A - 1 Jul 2018
Owen David, Töpf Ana, Preethish-Kumar Veeramani, Lorenzoni Paulo José, Vroling Bas, Scola Rosana Herminia, Dias-Tosta Elza, Geraldo Argemiro, Polavarapu Kiran, Nashi Saraswati, Cox Daniel, Evangelista Teresinha, Dawson John, Thompson Rachel, Senderek Jan, Laurie Steven, Beltran Sergi, Gut Marta, Gut Ivo, Nalini Atchayaram, Lochmüller Hanns
Abstract excerpt
Congenital myasthenic syndrome (CMS) is a heterogeneous disorder that causes fatigable muscle weakness. CMS has been associated with variants in the MuSK gene and, to date, 16 patients have been reported. MuSK-CMS patients present a different phenotypic pattern of limb girdle weakness. Here, we describe four additional patients and discuss the phenotypic and clinical relationship with those previously reported....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.