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 2026 (updated 18/05/2026)

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Gene symbol and protein	Gene Location	All allelic disease phenotypes - locus/disease symbols
ISCU Iron-sulfur cluster scaffold homolog (E. coli)(M)	12q24.1	* myopathy with deficiency of succinate dehydrogenase and aconitase - (16.34) * myopathy with lactic acidosis, hereditary - HML (16.34) * myopathy with exercise intolerance, swedish type - (16.34)