A novel missense pathogenic variant in NEFH causing rare Charcot-Marie-Tooth neuropathy type 2CC
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DOI: 10.1007/s10072-020-04595-z
Abstract: The purpose of this research is to explore the underlying genes of Charcot-Marie-Tooth (CMT). Technologies such as electrophysiological testing and gene sequencing have been applied. We identified a novel variant NEFH c.2215C>T(p.P739S)(HGNC:7737) in a heterozygous… read more here.
Keywords: novel missense; missense pathogenic; variant nefh; pathogenic variant ... See more keywords