GeneTable of Neuromuscular Disorders

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 2023

Gene symbol and protein	Gene Location	All allelic disease phenotypes - locus/disease symbols
VRK1 Vaccinia related kinase 1	14q32	* Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge - (12.10, 12.94, 14.129) * Spinal muscular atrophy, distal, autosomal recessive - DSMA (12.10, 12.94, 14.129) * Pontocerebellar hypoplasia type 1 - PCH1 (12.10, 12.94, 14.129)