Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
RFC4 Replication factor C, subunit 4      | 3q27.3 | * Congenital myopathy with severe hypotonia and axial weakness - (17.41) |
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 2026 (updated 18/05/2026)
Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
RFC4 Replication factor C, subunit 4 | 3q27.3 | * Congenital myopathy with severe hypotonia and axial weakness - (17.41) |