EP.03Mevalonate kinase deficiency - a mimic of mitochondrial myopathy in clinic and muscle biopsy

In 2011 a 43-year-old man with retinitis pigmentosa, cerebellar ataxia, mild mental retardation and myopathy was seen in our outpatient clinic. He showed a limb girdle patter of weakness and CK persistently> 1.000 U/l. Due to the suggestive combination of symptoms and a likewise affected brother, he was considered to have a mitochondrial disorder. This was supported by some COX-negative fibres in a myopathic vastus lateralis biopsy, but genetic analysis failed to confirm this. He returned to our clinic in 2019 reporting that his retinal disease had been attributed to compound heterocygeous mutations in the MVK gene by his treating ophthalmologist.

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: C. von Landenberg, C. Kornblum, J. Reimann Source Type: research