Journal article
Assessing non-Mendelian inheritance in inherited axonopathies
Abstract
PURPOSE: Inherited axonopathies (IA) are rare, clinically and genetically heterogeneous diseases that lead to length-dependent degeneration of the long axons in central (hereditary spastic paraplegia [HSP]) and peripheral (Charcot-Marie-Tooth type 2 [CMT2]) nervous systems. Mendelian high-penetrance alleles in over 100 different genes have been shown to cause IA; however, about 50% of IA cases do not receive a genetic diagnosis. A more …
Authors
Bis-Brewer DM; Gan-Or Z; Sleiman P; Rodriguez A; Bacha A; Kosikowski A; Wood B; McCray B; Blume B; Siskind C
Journal
Genetics in Medicine, Vol. 22, No. 12, pp. 2114–2119
Publisher
Elsevier
Publication Date
December 2020
DOI
10.1038/s41436-020-0924-0
ISSN
1098-3600