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 2024 (updated 17/01/2024)

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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 - (12.100, 12.22, 14.135) * Spinal muscular atrophy, distal, autosomal recessive - DSMA (12.100, 12.22, 14.135) * Pontocerebellar hypoplasia type 1 - PCH1 (12.100, 12.22, 14.135)