Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations

Abstract

Though dysfunction of neuromuscular junction (NMJ) is associated with congenital myasthenic syndrome (CMS), the proteins involved in neuromuscular transmission have not been completely identified. In this study, we aimed to identify a novel CMS gene in a consanguineous family with limb-girdle type CMS. Homozygosity mapping of the novel CMS gene was… (More)
DOI: 10.1038/ejhg.2016.162

Topics

5 Figures and Tables

Cite this paper

@article{Lam2017LimbGM, title={Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations}, author={C. W. Lam and Ka-sing Lawrence Wong and H Leung and C. Y. Law}, journal={European Journal of Human Genetics}, year={2017}, volume={25}, pages={192-199} }