A rare association of myasthenia gravis and mitochondrial myopathy: a clinical, biochemical and morphologic study of one case.
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.
Plewnia
K
K
Institute of Neurological Science, Neurometabolic Disease Unit, University of Siena, Italy.
Dotti
M T
MT
Malandrini
A
A
Manneschi
L
L
Battisti
C
C
De Stefano
N
N
Rufa
A
A
Motolese
E
E
Federico
A
A
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