Clinical and genetic characterization of an Italian family with slow-channel syndrome.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology(2019)
摘要
SCCMS is characterized by a broad and heterogeneous clinical phenotype in which disease onset, symptoms, severity, and progression can be highly variable even between family members. The identification of a CHRNE mutation allowed to make the definitive diagnosis of CMS in this family and contributed to define the clinical spectrum of this disease.
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关键词
CHRNE mutation,Congenital myasthenic syndrome,Linkage analysis,Slow-channel congenital myasthenic syndrome,Whole-exome sequencing
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