Iranian researchers report the clinical and biological data from a series of nine patients diagnosed with PNPLA2 gene-related muscle lipidosis:
- the nine patients came from seven different Iranian families, most of them consanguineous,
- the clinical picture consisted of an initially proximal muscle deficit in young adults, with associated cardiomyopathy in two of the nine cases,
- it should be noted that one of the relatives had only persistent hyperCKemia with no motor disorders,
- muscle biopsy and genetic analysis helped to orient and confirm the diagnosis.
According to the authors, two PNPLA2 mutations appear to be particularly common in Iran.
