Muscular dystrophy with particular oculopharyngeal involvement.
The authors report the case of 33-year-old woman who presented with a 20 year history of external ophthalmoplegia with later involvement of pharyngeal and proximal muscles. Tensilon test excluded myasthenia gravis. Electromyography showed myopathy and muscle biopsy showed evidence of mitochondrial myopathy. Recent investigations revealed that the pathogenesis was probably due to abnormal genetic transmission in mitochondrial inner membrane respiratory chains. To the authors' knowledge, this is the first case reported in Thailand.
Eksantivongs
S
S
Buranasiri
P
P
Ratanarapee
S
S
Thakerngpol
K
K
D000328:Adult; D005260:Female; D006801:Humans; D009132:Muscles; D009136:Muscular Dystrophies / Q000150:complications*; D009886:Ophthalmoplegia / Q000209:etiology*; D010609:Pharyngeal Muscles