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 2023
Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
COL6A3 Alpha 3 type VI collagen       | 2q37 | * Bethlem myopathy - (1.23, 1.54, 2.4, 2.8)* LGMDD5 - (1.23, 1.54, 2.4, 2.8)* Ullrich congenital muscular dystrophy - UCMD1 (1.23, 1.54, 2.4, 2.8)* LGMDR22 - (1.23, 1.54, 2.4, 2.8) |