[Ptosis and asthenia manifesting a mitochondrial myopathy].
We report a case of mitochondrial myopathy discovered in a 55-year old woman who was being investigated for the cause of her asthenia. Physical examination showed ptosis of the upper eyelid and proximal muscle deficit. Histological examination of a muscle biopsy disclosed rare fibres with mitochondrial aggregates. Biochemical exploration of muscle tissue revealed a double enzyme deficit involving complexes I and IV of the respiratory chain. Clinical improvement was obtained after the patient was put on coenzyme Q10. We conclude that a diagnosis of mitochondrial myopathy must be considered in patients, including middle-aged adults, presenting with muscular asthenia.
Disdier
P
P
Service de Médecine Interne, Hôpital de la Timone, Marseille.
Harlé
J R
JR
Figarella-Branger
D
D
Chérif
A A
AA
Desnuelle
C
C
Weiller
P J
PJ
D001247:Asthenia / Q000209:etiology*; D001706:Biopsy; D001763:Blepharoptosis / Q000209:etiology*; D003067:Coenzymes; D003937:Diagnosis, Differential; D042963:Electron Transport Complex II; D014450:Electron Transport Complex III / Q000032:analysis; D005260:Female; D006801:Humans; D008875:Middle Aged; D017240:Mitochondrial Myopathies / Q000150:complications* / Q000188:drug therapy / Q000473:pathology*; D009097:Multienzyme Complexes / Q000032:analysis; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000032:analysis; D010088:Oxidoreductases / Q000032:analysis; D013385:Succinate Dehydrogenase / Q000032:analysis; D014451:Ubiquinone / Q000031:analogs & derivatives / Q000627:therapeutic use
D003067:Coenzymes; D009097:Multienzyme Complexes; D014451:Ubiquinone; D010088:Oxidoreductases; D042963:Electron Transport Complex II; D013385:Succinate Dehydrogenase; D016660:NAD(P)H Dehydrogenase (Quinone); D014450:Electron Transport Complex III; C024989:coenzyme Q10
Ptosis et asthénie révélateurs d'une myopathie mitochondriale.