A case of a missense DYNC1H1 mutation causing spinal muscular atrophy with lower limb predominance concurrent with germ cell tumor
- Author:
Myung Ah LEE
1
;
Myungshin KIM
;
Jung Hwan LEE
Author Information
- Publication Type:4
- From: Annals of Clinical Neurophysiology 2024;26(1):26-29
- CountryRepublic of Korea
- Language:English
- Abstract: We report a patient diagnosed with a germ-cell tumor presenting with spinal muscular atrophy with lower limb predominance (SMA-LED) caused by a DYNC1H1 genetic variant. His clinical and electrophysiologic phenotype was compatible with SMA-LED. We identified a heterozygous missense variant (c.1793G>T) of DYNC1H1. This report expands the clinical spectrum of DYNC1H1-related disorders, and reinforces the importance of DYNC1H1 in both central and peripheral neuronal functions. We suggest that germ-cell tumors should be considered as a possible phenotype of DYNC1H1-related disorders.
