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 2025 (updated 12/03/2025)

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Gene symbol and protein	Gene Location	All allelic disease phenotypes - locus/disease symbols
DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2	2q32-q34	* Spinal muscular atrophy, distal related to DNAJB2 - (12.9, 14.84) * Autosomal recessive CMT2 related to DNAJB2 - (12.9, 14.84) * Spinal muscular atrophy, distal, autosomal recessive, 5 - DSMA5 (12.9, 14.84)