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
COL6A3 Alpha 3 type VI collagen	2q37	* Bethlem myopathy - (1.22, 1.40, 2.4, 2.8) * LGMDD5 - (1.22, 1.40, 2.4, 2.8) * Ullrich congenital muscular dystrophy - UCMD1 (1.22, 1.40, 2.4, 2.8) * LGMDR22 - (1.22, 1.40, 2.4, 2.8)