An Iranian cohort of patients with muscular lipidosis

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.


Neutral lipid storage disease with myopathy: clinicopathological and genetic features of nine Iranian patients. Shahriyari H, Ramezani M, Nilipour Y et al. Neuromuscul Disord. 2024 Feb.