A recurrent mutation of the RYR1 gene is responsible for a congenital form of myopathy with benign progression

Although the usual mode of presentation of RYR1-related myopathies is that of congenital myopathy, the range of phenotypes related to pathogenic variants of this gene is constantly widening.

A group of French clinicians and biologists have identified a group of 13 patients who are carriers of a recurrent mutation in the RYR1 gene. An analysis of their clinical and laboratory data has shown that:

  • this variant was wrongly considered to be a VUS (variant of unknown significance) in the past;
  • the initial neonatal hypotonia is generally severe but does not predetermine later progression, which tends to be benign;
  • the lesions observed in muscle histology are not very specific.


A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course. Biancalana V, Rendu J, Chaussenot A, Mecili H, Bieth E, Fradin M, Mercier S, Michaud M, Nougues MC, Pasquier L, Sacconi S, Romero NB, Marcorelles P, Authier FJ, Gelot Bernabe A, Uro-Coste E, Cances C, Isidor B, Magot A, Minot-Myhie MC, Péréon Y, Perrier-Boeswillwald J, Bretaudeau G, Dondaine N, Bouzenard A, Pizzimenti M, Eymard B, Ferreiro A, Laporte J, Fauré J, Böhm J. Acta Neuropathol Commun. 2021 (Sept). 9(1):155.