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 |
MYOT Myotilin       | 5q31 | * Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A (4.16, 5.3, 5.4)* Spheroid body myopathy - (4.16, 5.3, 5.4, 5.4)* Myofibrillar myopathy, myotilin related - MFM3 (4.16, 5.3, 5.4, 5.4) |