Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
NEB Nebulin       | 2q22 | * Distal myopathy with nebulin defect - (3.6, 4.17, 4.18)* Nemaline myopathy 2, autosomal recessive - NEM2 (3.6, 4.17, 4.18) |
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 |
NEB Nebulin | 2q22 | * Distal myopathy with nebulin defect - (3.6, 4.17, 4.18)* Nemaline myopathy 2, autosomal recessive - NEM2 (3.6, 4.17, 4.18) |