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 |
COL12A1 Collagen type XII alpha 1 chain       | 6q13-q14 | * COL12A1-related congenital muscular dystrophy - (2.9, 2.10, 2.11)* Ullrich congenital muscular dystrophy 2 - UCMD2 (2.9, 2.10, 2.11)* Bethlem myopathy 2 - BTHLM2 (2.9, 2.10, 2.11) |