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 2024 (updated 17/01/2024)

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Gene symbol and protein	Gene Location	All allelic disease phenotypes - locus/disease symbols
MYBPC1 Myosin-binding proteinC, slow type	12q23.2	* Arthrogryposis, distal, type 1B - DA1B (3.44, 12.90, 16.10) * Lethal Congenital Contracture Syndrome 4 - LCCS4 (3.44, 12.90, 16.10) * Congenital myopathy 16 - CMYP16 (3.44, 12.90, 16.10)