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 |
POMK Protein-O-mannose kinase      | 8p11.21 | * Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 - MDDGA12 (1.54, 2.29)* Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C12 - MDDGC12 (1.54, 2.29) |