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)
Grey lines background indicate newly added items |
| Disease phenotype | Item in this table | Key references | Gene symbol (chromosome) protein | All allelic disease phenotypes - locus/disease symbols | ||||||||||||||
| Refsum disease-2 (adult) - (AR) | |
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