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 2025 (updated 12/03/2025)
Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
IGHMBP2 Immunoglobulin mu binding protein 2       | 11q13.2-q13.4 | * Spinal muscular atrophy with respiratory distress - SMARD1 (12.5, 14.91)* Autosomal recessive CMT axonal type 2S - CMT2S (12.5, 14.91) |