Mitochondrial myopathy associated with myasthenia gravis in a young man.

ABSTRACT

An 18-year-old man presented with progressive weakness of proximal muscles with prominent diurnal variation for 3 months. He had bilateral ptosis since his childhood without diurnal variation or double vision. Neurological examination showed involvement of levator palpebrae superioris and lateral rectus muscles bilaterally. The plasma glucose after 75 gm glucose load was 302 mg/dL. The electrophysiological study revealed myopathic pattern and a decremental response in repetitive nerve stimulation. The plasma lactate was elevated and the muscle biopsy showed numerous ragged-red fibers. Serum acetylcholine receptor antibody assay was positive. We diagnosed myasthenia gravis with mitochondrial myopathy.