Congenital myasthenic syndrome (CMS) caused by novel mutation in LRP4. Phenotypic heterogeneity and defects in neuromuscular transmission (NMT) identified in a second kinship (P2.021)

CONCLUSIONS: (1) The identified LRP4 mutation disrupts agrin-MuSK-LRP4 signaling, results in poorly developed and degenerating EPs, and impairs multiple parameters of NMT. (2) LRP4-CMS can show marked intrafamilial heterogeneity, can be severely disabling, but can be mitigated by albuterol. Study Supported by: NIH, Mayo CIM.Disclosure: Dr. Selcen has nothing to disclose. Dr. Shen has nothing to disclose. Dr. Ohkawara has nothing to disclose. Dr. McEvoy has nothing to disclose. Dr. Ohno has nothing to disclose. Dr. Engel has nothing to disclose.

Source: Neurology - April 8, 2015 Category: Neurology Authors: Selcen, D., Shen, X., Ohkawara, B., McEvoy, K., Ohno, K., Engel, A. Tags: Neuromuscular Disease: Genetics and Outcomes Source Type: research