Whole-Genome Linkage Analysis with Whole-Exome Sequencing Identifies a Novel Frameshift Variant in < b > < i > NEFH < /i > < /b > in a Chinese Family with Charcot-Marie-Tooth 2: A Novel Variant in < b > < i > NEFH < /i > < /b > for Charcot-Marie-Tooth 2

Conclusions: We identified a novel stop loss variant inNEFH that is likely pathogenic for CMT2, and the results provide further evidence for the role of an aberrant assembly of neurofilament in CMT.Neurodegener Dis 2018;18:74 –83
Source: Neurodegenerative Diseases - Category: Neurology Source Type: research