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 |
FXR1 FMR1 autosomal homolog       | 3q26.33 | * Congenital myopathy 9A - CMYP9A (3.35, 3.36)* Congenital myopathy 9B, proximal with minicore - CMYP9B (3.35, 3.36) |