This table has been prepared by Dr Gisèle Bonne * - PhD and by Pr. François Rivier ** - MD, PhD
This website is developed and maintained by Dalil Hamroun** - PhD
* Sorbonne Université-Inserm, Centre of Research in Myology , Paris, France.
** Chu de Montpellier, Montpellier. France.
GT_NMD 2024 (updated 17/01/2024)
Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
DYNC1H1 Dynein, cytoplasmic 1, heavy chain 1       | 14q32.31 | * Spinal muscular atrophy, lower extremity, autosomal dominant - SMALED (12.40, 14.67)* Charcot-Marie-Tooth disease, axonal, type 20 - CMT2O (12.40, 14.67) |