title: A rare association of myasthenia gravis and mitochondrial myopathy: a clinical, biochemical and morphologic study of one case.
abstract: Myasthenia gravis and mitochondrial myopathy may present with similar clinical symptoms as inconstant palpebral ptosis, ophthalmoparesis, and muscle weakness. A few case initially diagnosed as myasthenia gravis by a positive decremental response on EMG and successful anticholinesterase therapy revealed to be affected by mitochondrial disease. We report a new case initially found to be affected by myasthenia gravis in whom muscle biopsy, performed because of symptom worsening, disclosed a mitochondrial myopathy. It is not clear if the association of mitochondrial myopathy and myasthenia gravis is coincidental or if there is a pathogenic link between the two pathologies. We suggest that muscle biopsy should be performed in cases with atypical myasthenia gravis signs.
authors.affiliation: Institute of Neurological Science, Neurometabolic Disease Unit, University of Siena, Italy.
authors.forename: K
authors.initials: K
authors.lastname: Plewnia
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: L
authors.initials: L
authors.lastname: Manneschi
authors.forename: C
authors.initials: C
authors.lastname: Battisti
authors.forename: N
authors.initials: N
authors.lastname: De Stefano
authors.forename: A
authors.initials: A
authors.lastname: Rufa
authors.forename: E
authors.initials: E
authors.lastname: Motolese
authors.forename: A
authors.initials: A
authors.lastname: Federico
mesh_terms: D000368:Aged; D004579:Electron Transport; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008928:Mitochondria / Q000378:metabolism / Q000473:pathology*; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology* / Q000648:ultrastructure*; D009157:Myasthenia Gravis / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology