French myologists report the case of three adults (two of whom are related) of Portuguese origin, who were treated in France for a slowly progressive muscle deficiency:
- histological and genetic studies confirmed the diagnosis of distal myopathy linked to a known variant of the MATR3 gene encoding matrin-3.
- this pathogenic variant has already been reported in the literature as being very common, regardless of the ethnic origin of the individuals concerned,
- the onset of symptoms was late and the muscle weakness was predominantly distal,
- muscle biopsy revealed numerous bordered vacuoles within the muscle fibers.
This cohort adds to the series of patients already reported in the literature and reviewed by the authors.
