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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Disease table

Disease phenotype	OMIM	Gene symbol (chromosome) protein
Kennedy disease (12.47)	313200	AR (Xq11.2-q12) Androgen receptor
Klippel-Feil syndrome with Nemalin myopathy and facial dysmorphism (3.15)	616549	MYO18B (22q12.1) Myosin XVIIIB
Kugelberg-Welander Syndrome (12.1, 12.3, 12.2, 12.4)	253400	SMN1 (5q13) Survival of motor neuron 1, telomeric