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 |
MCM3AP Minichromosome maintenance 3-associated protein       | 21q22.3 | * Charcot-Marie-Tooth disease, axonal - (12.112, 14.99)* Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development - PNRIID (12.112, 14.99) |