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
CRYAB Crystallin, alpha B	11q22.3-q23.1	* Dilated cardiomyopathy related to alpha-crystallin - (5.2, 10.73, 14.85) * Charcot-Marie-Tooth disease, axonal, related to CRYAB - CMT2 (5.2, 10.73, 14.85) * Myofibrillar myopathy, alpha-B crystallin related - (5.2, 10.73, 14.85) * Myopathy, myofibrillar, 2 - MFM2 (5.2, 10.73, 14.85)