Exertional myalgia, contractures and annular erythema in a patient with muscle lactate dehydrogenase (LDH) deficiency

- A novel missense mutation in the lactate dehydrogenase A gene (LDHA) was identified in a Chinese family with glycogenosis type XI.
- Annular erythematous lesions with desquamating borders are typical.
- Recognition of skin manifesitation can be indicative to the diagnosis.