French researchers report the discovery of a gene responsible for a new myopathy beginning in childhood and accompanied by an accumulation of glycogen in the muscles:
- the clinical picture was relatively benign and did not progress very far,
- the index case, with no family history, was 26 years old and had been in diagnostic limbo for a long time,
- the diagnosis was resolved using whole genome sequencing (WGS), which identified a large deletion of the RALGALPA1 gene,
- this gene encodes a regulator of the type 4 glucose transporter (GLUT4).
The authors underline the importance of searching more systematically and earlier for microdeletional anomalies in cases of erroneous results.
