Following the description in 2021 of a family with X-linked arthrogryposis due to a mutation in the THOC2 gene, a French team reports :
- another family with the same mutation responsible for arthrogryposis.
- Muscle biopsy showed a wide variation in the size of muscle fibres, as well as the presence of cytoplasmic bodies in almost 1% of muscle fibres, consisting of filamentary material that was denser in the centre.
- on electron microscopy, some fibres showed sub-sarcolemmal disorganisation.
