Electromyography revealed mild proximal weakness. Blood tests showed creatine kinase 997 UI/L, aspartate transaminase 398 UI/L, alanine transaminase 293 UI/L and lactate deshidrogenase 1730 UI/L. Ophthalmology test showed diffuse loss of pigment in the retinal pigment epithelium. Myocardial biopsy was performed (figure 4). A cardiomyopathy was suspected. LAMP2 gene was sequenced, and a stop mutation was identified.
Question What is the most likely diagnosis suggested based on the patient’s tests and history?
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