A myopathy with unusual features caused by PNPLA2 gene mutations.

Introduction: The PNPLA2 gene encodes the enzyme adipose triglyceride lipase (ATGL), which catalyzes the first step of triglyceride hydrolysis. Mutations in this gene are associated with an autosomal recessive lipid-storage myopathy, neutral lipid-storage disease with myopathy (NLSD-M).

Results: A 72-year-old woman had late-onset myopathy, with mild weakness, cramps, and exercise intolerance.