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.
