A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.

CONCLUSION: Our study demonstrates the wide clinical variability associated with a single disease causing variant in DYNC1H1 gene and this variant demonstrated a high penetrance within this large family. PMID: 32947049 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/32947049?dopt=Abstract

Source: European Journal of Medical Genetics - September 14, 2020 Category: Genetics & Stem Cells Authors: Viollet LM, Swoboda KJ, Mao R, Best H, Ha Y, Toutain A, Guyant-Marechal L, Laroche-Raynaud C, Ghorab K, Barthez MA, Pedespan JM, Hernandorena X, Lia AS, Deleuze JF, Masson C, Nelson I, Nectoux J, Si Y Tags: Eur J Med Genet Source Type: research