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 |
CAPN1 Calpain 1       | 11q13.1 | * Spinal Muscular Atrophy type IV related to CAPN1 - (12.10, 15.69)* Spastic paraplegia 76, autosomal recessive - SPG76 (12.10, 15.69) |