Clinical, electrophysiological, and genetic analysis of a family with two rare neuromuscular disorders: congenital myasthenic syndrome and hereditary polyneuropathy

Tezen et al. (2024) used Genomize-SEQ to analyze whole exome sequencing data from a multi-generational family, discovering that two rare nerve disorders, a neuromuscular junction defect and a hereditary neuropathy, were caused by separate gene mutations co-existing in the same family due to a history of consanguineous marriages.