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
ATXN1 Ataxin 1	6p22.3	* Spinocerebellar ataxia 1 - SCA1 (13.1) * Olivopontocerebellar atrophy I - OPCA1 (13.1)
ATXN1 Ataxin 1	6p22.3	* Spinocerebellar ataxia 1 - SCA1 (13.1) * Olivopontocerebellar atrophy I - OPCA1 (13.1)
ATXN10 Ataxin 10	22q13.31	* Spinocerebellar ataxia 10 - SCA10 (13.9)