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)
Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
COL6A1 Alpha 1 type VI collagen       | 21q22.3 | * Bethlem myopathy - (1.20, 1.38, 2.2, 2.6)* LGMDD5 - (1.20, 1.38, 2.2, 2.6)* Ullrich congenital muscular dystrophy - UCMD1 (1.20, 1.38, 2.2, 2.6)* LGMDR22 - (1.20, 1.38, 2.2, 2.6) |