Megaconial myopathy is an ultra-rare neuromuscular disease caused by recessive mutations in the CHKB gene encoding an enzyme involved in lipid transport. Researchers report the clinical and biological data of 13 patients diagnosed in Iran in recent years:
- the 13 patients came from 11 consanguineous families,
- The phenotype invariably combined motor disorders of varying intensity, cognitive disorders and, where appropriate, behavioural disorders.
- Muscle biopsy revealed large mitochondria,
- six of the 11 pathological CHKB variants found had never been described before.
This kind of work contributes to a better understanding of the natural history of this very rare disease.
