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
HSPB8 Heat shock 27kDa protein 8	12q24.23	* Rimmed vacuole myopathy - (4.27, 4.28, 12.24, 14.58) * Neuropathy, distal hereditary motor, type II - HMN2A (4.27, 4.28, 12.24, 14.58) * Charcot-Marie-Tooth neuropathy Type 2L - CMT2L (4.27, 4.28, 12.24, 14.58)