GeneTable of Neuromuscular Disorders

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)

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Gene symbol and protein	Gene Location	All allelic disease phenotypes - locus/disease symbols
FLNC Filamin C, gamma (actin-binding protein - 280)	7q32	* Myopathy, myofibrillar, filamin C-related - MFM5 (4.8, 5.6, 10.100, 10.28) * Myopathy, distal, 4 - MPD4 (4.8, 5.6, 10.100, 10.28) * Cardiomyopathy, familial hypertrophic, 26 - CMH26 (4.8, 5.6, 10.100, 10.28)